Inherited Peripheral Neuropathies Mutation Database

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Title A novel stop codon mutation in the PMP22 gene associated with a variable phenotype.
Authors Abe KT, Lino AM, Hirata MT, Pavanello RC, Brotto MW, Marchiori PE, Zatz M
Reference Neuromuscul Disord 14: 313-320, 2004 (PubMed ID: 15099590 )
PMP22: (Cys109X)
Mutations

Title Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32.
Authors Abrams CK, Freidin M, Bukauskas F, Dobrenis K, Bargiello TA, Verselis VK, Bennett MV, Chen L, Sahenk Z
Reference J Neurosci 23: 10548-10558, 2003 (PubMed ID: 14627639 )
GJB1 (Cx32): (Val181Ala)
Mutations

Title Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene.
Authors Ainsworth PJ, Bolton CF, Murphy BC, Stuart JA, Hahn AF, Grattan-Smith P, Navarro C, Neitzel H, Polster T, Topaloglu H,
Reference Hum Genet 103: 242-244, 1998 (PubMed ID: 9760211 )
PMP22: (Ser72Pro) GJB1 (Cx32): (Deletion of complete coding region)
Mutations

Title Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.
Authors Ammar N, Nelis E, Merlini L, Barisic N, Amouri R, Ceuterick C, Martin JJ, Timmerman V, Hentati F, De Jonghe P
Reference Neuromuscul Disord 13: 720-728, 2003 (PubMed ID: 14561495 )
GDAP1: ([Glu114fs]+[Leu239Phe]) ([Arg120Trp]+[Gly271Arg]) ([Arg161His]+[Arg161His]) ([Arg282Cys]+[Arg282Cys])
Mutations

Title
Authors Ananth U, Athena Diagnostics Inc.
Reference personal data : , 1999
GJB1 (Cx32): (Trp3X) (Gly12Gly) (Ile30Phe) (Ile30Thr) (Ile30Met) (Met34Ile) (Trp44X) (Phe51Leu) (Gly59Arg) (Cys60Ser) (Cys60Arg) (Phe69Leu) (Pro70Ala) (Pro70Ser) (Ser72Phe) (Trp77Leu) (Leu81His) (Leu89Val) (Val91Met) (Val91Ala) (Ala96Val) (Leu106Leu) (Leu131Pro) (Leu131Leu) (Thr134Asn) (Ser138Gly) (Ala147Ala) (Pro158Leu) (Ala161Ala) (Cys168Tyr) (Asp169Asp) (Ile213Val)
Mutations

Title Familial dysautonomia is caused by mutations of the IKAP gene.
Authors Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY
Reference Am J Hum Genet 68: 753-758, 2001 (PubMed ID: 11179021 )
IKBKAP: ([Arg696Pro]+[5'-splice site (skipping ex20)]) ([5'-splice site]+[5'-splice site])
Mutations

Title A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E.
Authors Andrigo C, Boito C, Prandini P, Mostacciuolo ML, Siciliano G, Angelini C, Pegoraro E
Reference Neurogenetics 6: 49-50, 2005 (PubMed ID: 15654615 )
NEFL: (Glu525fs)
Mutations

Title Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V
Authors Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin S-Q, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED
Reference Am J Hum Genet 72: 1293-1299, 2003 (PubMed ID: 12690580 )
GARS: (Glu71Gly) (Leu129Pro) (Gly240Arg) (Gly526Arg)
Mutations

Title Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.
Authors Auer-Grumbach M, Strasser-Fuchs S, Robl T, Windpassinger C, Wagner K.
Reference Neurology 61: 1435-1437, 2003 (PubMed ID: 14638973 )
MPZ (P0): (Asp60His) (Ile62Met)
Mutations

Title Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early-Onset Glaucoma
Authors Azzedine H, Bolino A, Taïeb T, Birouk N, Di Duca M, Bouhouche H, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E
Reference Am J Hum genet 72: 1141-1153, 2003 (PubMed ID: 12687498 )
SBF2 (MTMR13): ([Gln956X]+[Gln956X]) ([Arg1196X]+[Arg1196X])
Mutations

Title Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene.
Authors Azzedine H, Ruberg M, Ente D, Gilardeau C, Perie S, Wechsler B, Brice A, LeGuern E, Dubourg O
Reference Neuromuscul Disord 13: 341-346, 2003 (PubMed ID: 12868504 )
GDAP1: ([Ser194X]+[Arg310Gln])
Mutations

Title Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.
Authors Azzedine H, Ravise N, Verny C, Gabreels-Festen A, Lammens M, Grid D, Vallat JM, Durosier G, Senderek J, Nouioua S, Hamadouche T, Bouhouche A, Guilbot A, Stendel C, Ruberg M, Brice A, Birouk N, Dubourg O, Tazir M, LeGuern E
Reference Neurology 67: 602-606, 2006 (PubMed ID: 16924012 )
SH3TC2 (KIAA1985): ([Ala73fs]+[Glu731fs]) ([Trp307X]+[Arg1109Pro]) ([3'-splice site]+[3'-splice site]) ([Arg658Cys]+[Arg658Cys]) ([Leu662Pro]+[Arg954X]) ([Asn881Ser]+[Arg954X]) ([Arg904X]+[Arg904X]) ([Arg954X]+[Arg954X])
Mutations

Title Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene.
Authors Bähr M, Andres F, Timmerman V, Nelis E, Van Broeckhoven C, Dichgans J
Reference J Neurol Neurosurg Psychiatry 66: 202-206, 1999 (PubMed ID: 10071100 )
GJB1 (Cx32): (Asn205Ser)
Mutations

Title Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene).
Authors Baloh RH, Jen JC, Kim G, Baloh RW
Reference Neurology 62: 1905-1906, 2004 (PubMed ID: 15159512 )
MPZ (P0): (Thr124Met)
Mutations

Title GDAP1 mutations in Czech families with early-onset CMT.
Authors Barankova L, Vyhnalkova E, Zuchner S, Mazanec R, Sakmaryova I, Vondracek P, Merlini L, Bojar M, Nelis E, De Jonghe P, Seeman P
Reference Neuromuscul Disord 17: 482-489, 2007 (PubMed ID: 17433678 )
GDAP1: ([Arg191X]+[Leu239Phe]) ([Leu239Phe]+[Leu239Phe])
Mutations

Title X-linked Charcot-Marie-Tooth disease (CMTX) in a severely affected female patient with scattered lesions in cerebral white matter.
Authors Basri R, Yabe I, Soma H, Matsushima M, Tsuji S, Sasaki H
Reference Intern Med 46: 1023-1027, 2007 (PubMed ID: 17603245 )
GJB1 (Cx32): (Arg142Trp)
Mutations

Title Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
Authors Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM
Reference Nat Genet 30: 21-22, 2002 (PubMed ID: 11743579 )
GDAP1: ([Trp31X]+[Trp31X]) ([Arg161His]+[Arg161His]) ([Ser194X]+[Ser194X])
Mutations

Title Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE.
Authors Beauvais K, Furby A, Latour P
Reference Neuromuscul Disord 16: 14-18, 2006 (PubMed ID: 16373087 )
GJB1 (Cx32): (-) LITAF: (Thr49Met)
Mutations

Title SPTLC1 is mutated in hereditary sensory neuropathy, type 1.
Authors Bejaoui K, Wu C, Scheffler MD, Haan G, Ashby P, Wu L, de Jong P, Brown RH Jr.
Reference Nat Genet 27: 261-262, 2001 (PubMed ID: 11242106 )
SPTLC1: (Cys133Tyr) (Cys133Trp)
Mutations

Title Identification of a 4 bp deletion (1560del4) in Po gene in a family with severe Charcot-Marie-Tooth disease.
Authors Bellone E, Mandich P, James R, Nelis E, Lamba LD, Van Broeckhoven C, Ajmar F
Reference Hum Mutat 7: 377-378, 1996 (PubMed ID: 8723697 )
MPZ (P0): (Ser233fs)
Mutations

Title A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.
Authors Bellone E, Di Maria E, Soriani S, Varese A, Lamba Doria L, Ajmar F, Mandich P
Reference Hum Mutat 14: 353-354, 1999 (PubMed ID: 10502832 )
EGR2: (Asp355Val)
Mutations

Title Novel MPZ Mutation In A Sporadic CMT Patient.
Authors Bellone E, Cassandrini D, Di Maria E, Balestra P, Grandis M, Mancardi GL, Schenone A, Ajmar F, Mandich P
Reference J Peripher Nerv Syst 6: 41, 2001
MPZ (P0): (Asp61Asn)
Mutations

Title An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP.
Authors Bellone E, Balestra P, Ribizzi G, Schenone A, Zocchi G, Di Maria E, Ajmar F, Mandich P
Reference J Neurol Neurosurg Psychiatry 77: 538-540, 2006 (PubMed ID: 16199442 )
PMP22: (5'-splice site)
Mutations

Title Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.
Authors Benedetti S, Bertini E, Iannaccone S, Angelini C, Trisciani M, Toniolo D, Sferrazza B, Carrera P, Comi G, Ferrari M, Quattrini A, Previtali SC
Reference J Neurol Neurosurg Psychiatry 76: 1019-1021, 2005 (PubMed ID: 15965218 )
LMNA: (Arg571Cys)
Mutations

Title SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.
Authors Bennett CL, Shirk AJ, Huynh HM, Street VA, Nelis E, Van Maldergem L, De Jonghe P, Jordanova A, Guergueltcheva V, Tournev I, Van Den Bergh P, Seeman P, Mazanec R, Prochazka T, Kremensky I, Haberlova J, Weiss MD, Timmerman V, Bird TD, Chance PF
Reference Ann Neurol 55: 713-720, 2004 (PubMed ID: 15122712 )
LITAF: (Ile74Ile) (Gly112Ser) (Trp116Gly)
Mutations

Title
Authors Bergmann
Reference personal data : , 2002
GJB1 (Cx32): (Val35Met) (Val43Met) (Glu102del) (Glu102del)
Mutations

Title A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany.
Authors Bergmann C, Schroder JM, Rudnik-Schoneborn S, Zerres K, Senderek J
Reference Mol Brain Res 88: 183-185, 2001 (PubMed ID: 11295246 )
GJB1 (Cx32): (-)
Mutations

Title Allelic variants in the 5' non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX).
Authors Bergmann C, Zerres K, Rudnik-Schoneborn S, Eggermann T, Schroder JM, Senderek J
Reference J Med Genet 39: e58, 2002 (PubMed ID: 12205128 )
GJB1 (Cx32): (-)
Mutations

Title Connexin mutations in X-linked Charcot-Marie-Tooth disease.
Authors Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH
Reference Science 262: 2039-2042, 1993 (PubMed ID: 8266101 )
GJB1 (Cx32): (Gly12Ser) (Val139Met) (Arg142Trp) (Leu156Arg) (Pro172Ser) (Asn175fs) (Glu186Lys)
Mutations

Title Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese.
Authors Bi H, Gao Y, Yao S, Dong M, Headley AP, Yuan Y.
Reference Neuropathology 27: 429-433, 2007 (PubMed ID: 18018475 )
SPTLC1: (Cys133Trp)
Mutations

Title GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.
Authors Biancheri R, Zara F, Striano P, Pedemonte M, Cassandrini D, Stringara S, Manganelli F, Santoro L, Schenone A, Bellone E, Minetti C
Reference J Neurol 253: 1234-1235, 2006 (PubMed ID: 16607474 )
GDAP1: ([Met116Arg]+[Met116Arg])
Mutations

Title Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot-Marie-Tooth disease associated with light-near dissociation
Authors Bienfait HM, Baas F, Gabreels-Festen AA, Koelman JH, Langerhorst CT, de Visser M
Reference Neuromuscul Disord 12: 281-285, 2002 (PubMed ID: 11801400 )
MPZ (P0): ([His81Tyr;Val113Phe])
Mutations

Title Phenotypes of three families with different Cx32 mutations.
Authors Bienfait HME, Baas F, Vreijling J, Hoogendijk JE, Gabreëls-Festen AAWM, de Visser M
Reference J Peripher Nerv Syst 4: 286-287, 1999
GJB1 (Cx32): (Ile28Asn) (Arg75Gln)
Mutations

Title Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation.
Authors Bienfait HM, Faber CG, Baas F, Gabreels-Festen AA, Koelman JH, Hoogendijk JE, Verschuuren JJ, Wokke JH, de Visser M
Reference J Neurol Neurosurg Psychiatry 77: 534-537, 2006 (PubMed ID: 16543539 )
MPZ (P0): (Tyr82His)
Mutations

Title Phenotype of Charcot-Marie-Tooth disease Type 2.
Authors Bienfait HM, Baas F, Koelman JH, de Haan RJ, van Engelen BG, Gabreëls-Festen AA, Ongerboer de Visser BW, Meggouh F, Weterman MA, De Jonghe P, Timmerman V, de Visser M
Reference Neurology 68: 1658-1667, 2007 (PubMed ID: 17502546 )
BSCL2: (Asn88Ser) MFN2: (Gln45Arg)
Mutations

Title
Authors
Reference personal data : , 2007
PRX: ([Leu59Pro]+[Cys715X])
Mutations

Title Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.
Authors Birouk N, Azzedine H, Dubourg O, Muriel MP, Benomar A, Hamadouche T, Maisonobe T, Ouazzani R, Brice A, Yahyaoui M, Chkili T, Le Guern E
Reference Arch Neurol 60: 598-604, 2003 (PubMed ID: 12707075 )
GDAP1: ([Ser194X]+[Ser194X])
Mutations

Title Two novel mutations in the MPZ gene coding region in Charcot-Marie-Tooth type 1 patients of Turkish origin: S54P, [I30del; GVYI29ins].
Authors Bissar-Tadmouri N, Gulsen-Parman Y, Latour P, Deymeer F, Serdaroglu P, Vandenberghe A, Battaloglu E
Reference Hum Mutat (Online) 14: 449, 1999 (PubMed ID: 10533074 )
MPZ (P0): (Ile30delinsGlyValTyrThr) (Ser54Pro)
Mutations

Title Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients.
Authors Bissar-Tadmouri N, Parman Y, Boutrand L, Deymeer F, Serdaroglu P, Vandenberghe A, Battaloglu E
Reference Clin Genet 58: 396-402, 2000 (PubMed ID: 11140841 )
PMP22: (Ser72Leu) (Pro122fs) GJB1 (Cx32): (Val91Met) (Asp169Asp) (Tyr211His)
Mutations

Title Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene.
Authors Blanquet-Grossard F, Pham-Dinh D, Dautigny A, Latour P, Bonnebouche C, Corbillon E, Chazot G, Vandenberghe A
Reference Clin Genet 48: 281-283, 1995 (PubMed ID: 8835320 )
MPZ (P0): (Ser63Phe)
Mutations

Title Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single glycosylation site in the major peripheral myelin glycoprotein Po.
Authors Blanquet-Grossard F, Pham-Dinh D, Dautigny A, Latour P, Bonnebouche C, Diraison P, Chapon F, Chazot G, Vandenberghe A
Reference Hum Mutat 8: 185-186, 1996 (PubMed ID: 8844219 )
MPZ (P0): (Asn122Ser)
Mutations

Title Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: a splice junction mutation in intron 5 and cluster of four mutations in exon 15.
Authors Bodzioch M, Lapicka K, Aslanidis C, Kacinski M, Schmitz G
Reference Hum Mutat 17: 72, 2001 (PubMed ID: 11139246 )
NTRK1 (TRKA): ([5'-splice site]+[His604Tyr;Gly613Val;Glu615X;Val617Leu])
Mutations

Title Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
Authors Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR
Reference Am J Hum Genet 68: 325-333, 2001 (PubMed ID: 11133365 )
PRX: (Thr102Thr) ([Arg368X]+[Val763fs]) (Ala406Thr) (Glu495Gln) (Pro497Pro) (Val882Ala) (Pro885Pro) (Ile921Met) ([Ser929fs]+[Ser929fs]) ([Ser929fs]+[Arg953X]) (Pro1083Arg) (Gly1132Arg) (Glu1259Lys) (Glu1359del)
Mutations

Title EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy.
Authors Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR
Reference Neurogenetics 3: 153-157, 2001 (PubMed ID: 11523566 )
EGR2: (Arg359Trp)
Mutations

Title Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation
Authors Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR
Reference Ann Neurol 51: 190-201, 2002 (PubMed ID: 11835375 )
PMP22: (Trp28Arg) (Leu71Pro) (Ser72Leu) (Gly94fs) MPZ (P0): (Ser78Leu) (Ser78Leu) (Tyr82Cys) (Ile89Asn+Val92Met+Ile162Met) (Gly123Cys) (Val136Glu) GJB1 (Cx32): (Arg15Trp) (Arg22Gln) (Glu102Gly) (Leu108Pro) (Asn205Ile) (Arg215Trp)
Mutations

Title CMT4A: Identification of a Hispanic GDAP1 founder mutation.
Authors Boerkoel CF, Takashima H, Nakagawa M, Izumo S, Armstrong D, Butler I, Mancias P, Papasozomenos SC, Stern LZ, Lupski JR.
Reference Ann Neurol 53: 400-405, 2003 (PubMed ID: 12601710 )
GDAP1: ([Arg120Gln]+[Arg120Gln]) ([Gln163X]+[Gln163X])
Mutations

Title Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
Authors Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MAM, Georgiou DM, Christodoulou K, Hausmanova-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco A
Reference Nat Genet 25: 17-19, 2000 (PubMed ID: 10802647 )
MTMR2: ([Glu276X;Phe494_Glu531del]+[Glu276X;Phe494_Glu531del]) ([Gln426X]+[Gln426X]) ([Gln482X]+[Arg477X]) ([Tyr579fs]+[Tyr579fs])
Mutations

Title Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy.
Authors Bolino A, Lonie LJ, Zimmer M, Boerkoel CF, Takashima H, Monaco AP, Lupski JR
Reference Neurogenetics 3: 107-109, 2001 (PubMed ID: 11354824 )
MTMR2: (Thr3Lys) ([Ala100Thr]+[?]) (Thr377Thr) (Thr411Thr) (Glu502Gln) ([Asn545Ser]+[?]) ([Ala602Gly]+[?])
Mutations

Title The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.
Authors Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tüyüz B, Landrieu P, Hentati F, Koenig M
Reference Nat Genet 26: 370-374, 2000 (PubMed ID: 11062483 )
GAN: ([Val7fs]+[Val7fs]) ([Arg15Ser]+[Arg15Ser]) ([Ser52Gly]+[Cys393X]) ([Ser79Leu]+[?]) ([Val82Phe]+[?]) ([Arg138His]+[Arg138His]) (Arg269Gln) ([Arg293X]+[Cys570Tyr]) ([Leu309Arg]+[Leu309Arg]) (-) ([Trp401X]+[Glu486Lys]) (Tyr431Tyr) ([Gln483X]+[Gln483X]) ([Glu486Lys]+[Glu486Lys]) ([Arg545Cys]+[Arg545Cys])
Mutations

Title Identification of seven novel mutations in the GAN gene.
Authors Bomont P, Ioos C, Yalcinkaya C, Korinthenberg R, Vallat JM, Assami S, Munnich A, Chabrol B, Kurlemann G, Tazir M, Koenig M
Reference Hum Mutat 21: 446, 2003 (PubMed ID: 12655563 )
GAN: ([Ile86Phe]+[Leul114_Thr119del]) ([Arg242X]+[Arg242X]) (Arg269Gln) ([Lys338X]+[del]) ([Gly368Arg]+[Gly368Arg]) ([Arg477X]+[Arg477X])
Mutations

Title New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.
Authors Bone LJ, Dahl N, Lensch MW, Chance PF, Kelly T, Le Guern E, Magi S, Parry G, Shapiro H, Wang S, Fischbeck KH
Reference Neurology 45: 1863-1866, 1995 (PubMed ID: 7477983 )
GJB1 (Cx32): (Val13Leu) (Ile30Asn) (Tyr65Cys) (Val95Met) (Trp133Arg) (Ile137fs) (Val139Met) (Leu156Arg) (Arg220X)
Mutations

Title Connexin32 and X-linked Charcot-Marie-Tooth disease.
Authors Bone LJ, Deschenes SM, Balice-Gordon RJ, Fischbeck KH, Scherer SS
Reference Neurobiol Dis 4: 221-230, 1997 (PubMed ID: 9361298 )
GJB1 (Cx32): (Val13Met) (Asn14Lys) (His16Pro) (Ile20Ser) (Gly21Asp) (Arg22Gln) (Ser26Leu) (Ile28Asn) (Ile28Thr) (Phe29Leu) (Met34Val) (Glu41Lys) (Trp44Leu) (Val63Ile) (Arg75Trp) (Arg75Pro) (Trp77X) (Gln80X) (Ser85Phe) (Thr86Ser) (Thr86Asn) (Pro87Leu) (His94Tyr) (His94Gln) (Val95Met) (His100Tyr) (Lys103Glu) (Arg107Trp) (Lys124fs) (Lys124Asn) (Ser128Pro) (Arg142Gln) (Tyr154X) (Tyr157Cys) (Pro158Arg) (Tyr160His) (Ala161Pro) (Arg164Gln) (Pro172Leu) (Asp178Tyr) (Cys179Arg) (Phe180Leu) (Val181Met) (Arg183Cys) (Arg183His) (Thr185del) (Lys187Glu) (Val189Ile) (Val189Gly) (Thr191_Phe193del) (Thr191fs) (Thr191_Phe193del) (Phe193Cys) (Ser198Phe) (Cys201Arg) (Leu204Val) (Asn205Ser) (Arg219Cys) (Arg219His) (Arg220Gly) (Arg230Cys) (Arg230Leu) (Phe235Cys) (Pro267fs)
Mutations

Title An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.
Authors Bonkowsky JL, Johnson J, Carey JC, Smith AG, Swoboda KJ
Reference Pediatrics 112: e237-e241, 2003 (PubMed ID: 12949319 )
NTRK1 (TRKA): ([Leu213Pro]+[Gly519fs)
Mutations

Title Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
Authors Bort S, Nelis E, Timmerman V, Sevilla T, Cruz-Martinez A, Martinez F, Millan JM, Arpa J, Vilchez JJ, Prieto F, Van Broeckhoven C, Palau F
Reference Hum Genet 99: 746-754, 1997 (PubMed ID: 9187667 )
PMP22: (5'-splice site) (Gly100Arg) (Cys109Cys) (Ile137Val) MPZ (P0): (Ser78Leu) (Arg98Cys) (3'-splice site) (Arg185fs) (Gly200Gly) (Pro205fs) (Ser228Ser) (Arg244Leu) GJB1 (Cx32): (Val23Ala) (Cys64Ser) (Pro87Ser) (Arg164Trp) (Arg164Gln) (Arg183Ser) (Arg183Cys) (Arg183His) (Arg215Trp)
Mutations

Title Dejerine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene.
Authors Bort S, Sevilla T, Garcia-Planells J, Blesa D, Paricio N, Vilchez JJ, Prieto F, Palau F
Reference Hum Mutat Suppl1: S95-98, 1998 (PubMed ID: 9452053 )
PMP22: (Ser79Pro)
Mutations

Title Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
Authors Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, Leguern E
Reference Brain Epub ahead of print: , 2007 (PubMed ID: 17347251 )
GDAP1: ([Ser194X]+[Ser194X]) LMNA: ([Arg298Cys]+[Arg298Cys])
Mutations

Title Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia
Authors Bouhouche A, Benomar A, Bouslam N, Chkili T, Yahyaoui M
Reference Journal of Medical Genetics 43: 441-443, 2006 (PubMed ID: 16399879 )
CCT5: ([His147Arg]+[His147Arg])
Mutations

Title Clinical and molecular findings in patients with giant axonal neuropathy (GAN).
Authors Bruno C, Bertini E, Federico A, Tonoli E, Lispi ML, Cassandrini D, Pedemonte M, Santorelli FM, Filocamo M, Dotti MT, Schenone A, Malandrini A, Minetti C
Reference Neurology 62: 13-16, 2004 (PubMed ID: 14718689 )
GAN: ([Val7fs]+[Tyr299Cys]) ([Ala49Thr]+[Pro315Leu]) ([5'-splice site]+[Leu510X]) ([Pro562Ala]+[Pro562Ala])
Mutations

Title Novel myelin protein zero mutation (Arg36Trp) in a patient with acute onset painful neuropathy.
Authors Burns TM, Phillips LH 2nd, Dimberg EL, Vaught BK, Klein CJ
Reference Neuromuscul Disord. 2006 May;16(5):308-10 16: 308-310, 2006 (PubMed ID: 16616847 )
MPZ (P0): (Arg36Trp)
Mutations

Title A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy
Authors Carvalho OP, Thornton GK, Hertecant J, Houlden H, Nicholas AK, Cox JJ, Rielly M, Al-Gazali L, Woods CG
Reference Journal of Medical Genetics 48: 131-135, 2011 (PubMed ID: 20978020 )
NGFB: ([Thr227fs]+[Thr227fs])
Mutations

Title Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population.
Authors Casasnovas C, Banchs I, Corral J, Martínez-Matos JA, Volpini V.
Reference Clin Genet 70: 516-523, 2006 (PubMed ID: 17100997 )
GJB1 (Cx32): (Tyr7Cys) (Val23Ala) (Ala39fs) (Glu47Gly) (Cys53Ser) (Val63Ile) (Phe69Leu) (Arg75Trp) (Ala147Ala) (Phe153fs) (Arg164Trp) (Arg164Gln) (Asp169Asp) (Cys179Tyr) (Val181Met) (Arg183His) (Cys201Arg) (Cys201Phe) (Tyr211His) (Leu212fs) (Ile214Asn)
Mutations

Title Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations.
Authors Castro C, Gómez-Hernandez JM, Silander K, Barrio LC
Reference J Neurosci 19: 3752-3760, 1999 (PubMed ID: 10234007 )
GJB1 (Cx32): (Cys280Gly)
Mutations

Title Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy.
Authors Ceuterick-de Groote C, De Jonghe P, Timmerman V, Van Goethem G, Löfgren A, Ceulemans B, Van Broeckhoven C, Martin JJ
Reference Pathol Res Pract 197: 193-198, 2001 (PubMed ID: 11314784 )
PMP22: (Ser72Leu)
Mutations

Title DNA deletion associated with hereditary neuropathy with liability to pressure palsies.
Authors Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD
Reference Cell 72: 143-151, 1993 (PubMed ID: 8422677 )
PMP22: (HNPP deletion)
Mutations

Title Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene.
Authors Chapon F, Latour P, Diraison P, Schaeffer S, Vandenberghe A
Reference J Neurol Neurosurg Psychiatry 66: 779-782, 1999 (PubMed ID: 10329755 )
MPZ (P0): (Thr124Met)
Mutations

Title DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4).
Authors Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW, Fischbeck KH, Timmerman V, Cornblath DR, Chance PF
Reference Am J Hum Genet 74: online pub, 2004 (PubMed ID: 15106121 )
ALS4 (SETX): (Thr3Ile) (Leu389Ser) (Arg2136His)
Mutations

Title Mutational studies in X-linked Charcot-Marie-Tooth disease (CMTX).
Authors Cherryson AK, Yeung L, Kennerson ML, Nicholson GA
Reference Am J Hum Genet 56: A216, 1994
GJB1 (Cx32): (Val35Met) (His111_His116del) (Pro158Ala) (Ser182Thr)
Mutations

Title Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2.
Authors Cho HJ, Sung D, Kim B, Ki CS
Reference Clin Genet 71: 267-272, 2007 (PubMed ID: 17309650 )
MFN2: (Arg94Trp) (His165Arg) (Ser263Pro) (Ser350Pro)
Mutations

Title Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2.
Authors Cho HJ, Kim BJ, Suh YL, An JY, Ki CS
Reference J Hum Genet 51: 905-908, 2006 (PubMed ID: 16946995 )
WNK1/HSN2: ([Gln73X]+[Asp379fs])
Mutations

Title Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with silver syndrome and distal hereditary motor neuropathy.
Authors Cho HJ, Sung DH, Ki CS
Reference Muscle Nerve : Epub ahead of print, 2007 (PubMed ID: 17486577 )
BSCL2: (Ser90Leu)
Mutations

Title Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
Authors Choi BO, Lee MS, Shin SH, Hwang JH, Choi KG, Kim WK, Sunwoo IN, Kim NK, Chung KW
Reference Hum Mutat 24: 185-186, 2004 (PubMed ID: 15241803 )
PMP22: (Ala106fs) MPZ (P0): (Asp118Asn) (3' splice site) (Lys236Glu) GJB1 (Cx32): (Leu10Leu) (Arg164Gln) (Cys168Arg) (Ser198Ser) EGR2: (Arg359Trp) (Arg362Arg) NEFL: (Gln93Gln) (Leu333Pro) (Glu396Lys)
Mutations

Title Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
Authors Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH
Reference Nature 448: 68-72, 2007 (PubMed ID: 17572665 )
FIG4: ([Ile41Thr]+[Phe98fs]) ([Ile41Thr]+[Arg183X]) ([Ile41Thr]+[Gly253fs]) ([Ile41Thr]+[Asp348fs])
Mutations

Title Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.
Authors Chung KW, Sunwoo IN, Kim SM, Park KD, Kim WK, Kim TS, Koo H, Cho M, Lee J, Choi BO
Reference Neurogenetics 6: 159-163, 2005 (PubMed ID: 15947997 )
GJB1 (Cx32): (GJB1:[Val136Ala]+EGR2:[Arg359Trp]) EGR2: (Arg359Trp) ([EGR2:Arg359Trp]+[GJB1:Val136Ala])
Mutations

Title Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.
Authors Chung KW, Kim SB, Park KD, Choi KG, Lee JH, Eun HW, Suh JS, Hwang JH, Kim WK, Seo BC, Kim SH, Son IH, Kim SM, Sunwoo IN, Choi BO
Reference Brain 129: 2103-2118, 2006 (PubMed ID: 16835246 )
MFN2: (Leu92Pro) (Arg94Trp) (Thr105Met) (Gly127Asp) (His165Arg) (Ser263Pro) (Arg280His) (Thr362Met) (Arg364Trp) (Met376Thr)
Mutations

Title Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.
Authors Claramunt R, Pedrola L, Sevilla T, Lopez de Munain A, Berciano J, Cuesta A, Sanchez-Navarro B, Millan JM, Saifi GM, Lupski JR, Vilchez JJ, Espinos C, Palau F
Reference J Med Genet 42: 358-365, 2005 (PubMed ID: 15805163 )
GDAP1: ([Glu114fs]+[Gln163X]) (Arg120Trp) (Thr157Pro)
Mutations

Title The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.
Authors Claramunt R, Sevilla T, Lupo V, Cuesta A, Millán JM, Vílchez JJ, Palau F, Espinós C
Reference Clin Genet 71: 343-349, 2007 (PubMed ID: 17470135 )
NDRG1: ([Arg148X]+[Arg148X]) SH3TC2 (KIAA1985): ([Cys737_Pro738delinsX]+[Arg1109X]) ([Arg1109X]+[Arg1109X])
Mutations

Title Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II.
Authors Coen K, Pareyson D, Auer-Grumbach M, Buyse G, Goemans N, Claeys KG, Verpoorten N, Laura M, Scaioli V, Salmhofer W, Pieber TR, Nelis E, De Jonghe P, Timmerman V.
Reference Neurology 66: 748-751, 2006 (PubMed ID: 16534117 )
WNK1/HSN2: ([Pro85fs]+[Gln364fs]) ([Gln184X]+[Gln184X]) ([Ile355fs]+[Ile355fs])
Mutations

Title A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2).
Authors Conforti FL, Muglia M, Mazzei R, Patitucci A, Valentino P, Magariello A, Sprovieri T, Bono F, Bergmann C, Gabriele AL, Peluso G, Nistico R, Senderek J, Quattrone A
Reference Neurology 63: 1327-1328, 2004 (PubMed ID: 15477569 )
SBF2 (MTMR13): ([5'-splice site]+[5'-splice site])
Mutations

Title The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
Authors Cuesta A, Pedrola L, Sevilla T, Garcia-Planells J, Chumillas MJ, Mayordomo F, LeGuern E, Marin I, Vilchez JJ, Palau F
Reference Nat Genet 30: 22-25, 2002 (PubMed ID: 11743580 )
GDAP1: ([Gln163X]+[Gln163X]) ([Gln163X]+[Ser194X]) ([Gln163X]+[Thr288fs])
Mutations

Title Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base sununit-1, cause hereditary sensory neuropathy type 1
Authors Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA
Reference Nat Genet 27: 309-312, 2001 (PubMed ID: 11242114 )
SPTLC1: (Cys133Tyr) (Cys133Trp) (Val144Asp)
Mutations

Title Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene.
Authors De Angelis MV, Di Muzio A, Capasso M, Angiari C, Cavallaro T, Fabrizi GM, Rizzuto N, Uncini A
Reference Neurology 63: 2180-2183, 2004 (PubMed ID: 15596778 )
MPZ (P0): (Val102fs)
Mutations

Title The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.
Authors De Jonghe P, Timmerman V, Ceuterick C, Nelis E, De Vriendt E, Löfgren A, Vercruyssen A, Verellen C, Van Maldergem L, Martin JJ, Van Broeckhoven C
Reference Brain 122: 281-290, 1999 (PubMed ID: 10071056 )
MPZ (P0): (Thr124Met)
Mutations

Title Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.
Authors De Jonghe P, Mersivanova I, Nelis E, Del Favero J, Martin JJ, Van Broeckhoven C, Evgrafov O, Timmerman V
Reference Ann Neurol 49: 245-249, 2001 (PubMed ID: 11220745 )
NEFL: (Pro8Arg)
Mutations

Title Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
Authors De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Levy N
Reference Am J Hum Genet 70: 726-736, 2002 (PubMed ID: 11799477 )
LMNA: ([Arg298Cys]+[Arg298Cys])
Mutations

Title Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations.
Authors De Sandre-Giovannoli A, Chaouch M, Boccaccio I, Bernard R, Delague V, Grid D, Vallat JM, Levy N, Megarbane A
Reference J Med Genet 2003: e87, 2003 (PubMed ID: 12843336 )
GDAP1: ([Ser162fsX166]+[Ser162fsX166]) ([Leu223X]+[Leu223X])
Mutations

Title Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation.
Authors Del Bo R, Locatelli F, Corti S, Scarlato M, Ghezzi S, Prelle A, Fagiolari G, Moggio M, Carpo M, Bresolin N, Comi GP
Reference Neurology 66: 752-754, 2006 (PubMed ID: 16534118 )
GARS: (Asp500Asn)
Mutations

Title Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.
Authors Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, Mégarbané A, Haase G, Lévy N
Reference Am J Hum Genet 81: 1-16, 2007 (PubMed ID: 17564959 )
FGD4: ([Met298Thr]+[Met298Thr]) ([Met298Arg]+[Met298Arg]/[Met298fs]+[Met298fs])
Mutations

Title Giant axonal neuropathy: clinical and genetic study in six cases.
Authors Demir E, Bomont P, Erdem S, Cavalier L, Demirci M, Kose G, Muftuoglu S, Cakar AN, Tan E, Aysun S, Topcu M, Guicheney P, Koenig M, Topaloglu H
Reference J Neurol Neurosurg Psychiatry 76: 825-832, 2005 (PubMed ID: 15897506 )
GAN: ([Arg293X]+[Arg293X]) (5'-splice site mutation)
Mutations

Title A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect.
Authors Di Maria E, Gulli R, Balestra P, Cassandrini D, Pigullo S, Doria-Lamba L, Bado M, Schenone A, Ajmar F, Mandich P, Bellone E
Reference J Neurol Neurosurg Psychiatry 75: 1495-1498, 2004 (PubMed ID: 15377708 )
GDAP1: ([Met116Arg]+[Met116Arg])
Mutations

Title Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation
Authors Donaghy M, Sisodiya SM, Kennett R, McDonald B, Haites N, Bell C
Reference J Neurol Neurosurg Psychiatry 69: 799-805, 2000 (PubMed ID: 11080236 )
MPZ (P0): (Ile99Thr)
Mutations

Title The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity
Authors Dubourg O, Tardieu S, Birouk N, Gouider R, Leger JM, Maisonobe T, Brice A, Bouche P, LeGuern E
Reference Neuromuscul Disord 11: 458-6-463, 2001 (PubMed ID: 11404117 )
GJB1 (Cx32): (Gly159Asp)
Mutations

Title Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.
Authors Dubourg O, Tardieu S, Birouk N, Gouider R, Leger JM, Maisonobe T, Brice A, Bouche P, LeGuern E
Reference Brain 124: 1958-1967, 2001 (PubMed ID: 11571214 )
GJB1 (Cx32): (Arg22Gln) (Ala39fs) (Leu56Phe) (Val91Met) (His94Asp) (His94Gln) (Thr130Ile) (Arg142Gln) (Arg164Trp) (Arg164Gln) (Glu186Lys) (Gly199Arg) (Arg215Trp)
Mutations

Title The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.
Authors Dubourg O, Azzedine H, Yaou RB, Pouget J, Barois A, Meininger V, Bouteiller D, Ruberg M, Brice A, LeGuern E
Reference Neurology 66: 1721-1726, 2006 (PubMed ID: 16769947 )
GARS: (Gly526Arg)
Mutations

Title NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement.
Authors Echaniz-Laguna A, Degos B, Bonnet C, Latour P, Hamadouche T, Levy N, Leheup B
Reference Neuromuscul Disord. 2007 Feb;17(2):163-8 17: 163-168, 2007 (PubMed ID: 17142040 )
NDRG1: ([Arg148X]+[Arg148X])
Mutations

Title Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.
Authors Echaniz-Laguna A, Nicot AS, Carré S, Franques J, Tranchant C, Dondaine N, Biancalana V, Mandel JL, Laporte J
Reference Neuromuscul Disord. : [Epub ahead of print], 2007 (PubMed ID: 17825552 )
DNM2: (Glu368Gln)
Mutations

Title Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation.
Authors Eggers SD, Keswani SC, Melli G, Cornblath DR
Reference Muscle Nerve 29: 867-869, 2004 (PubMed ID: 15170620 )
MPZ (P0): (Gly163Arg)
Mutations

Title A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception.
Authors Einarsdottir E, Carlsson A, Minde J, Toolanen G, Svensson O, Solders G, Holmgren G, Holmberg D, Holmberg M
Reference Hum Mol Genet 13: 799-805, 2004 (PubMed ID: 14976160 )
NGFB: ([Arg221Trp]+[Arg221Trp])
Mutations

Title T>C transition in codon 72 (TCG-CCG), S72P, a putative hotspot in PMP22
Authors Ekici AB, Park O, Korinthenberg R, Grehl H, Rautenstrauss B
Reference Hum Mutat 17: 81, 2001 (PubMed ID: 11139264 )
PMP22: (Ser72Pro)
Mutations

Title Charcot-Marie-Tooth disease and related peripheral neuropathies: novel mutations in the peripheral myelin genes connexin 32 (Cx32), peripheral myelin protein 22 (PMP22), and peripheral myelin protein zero (MPZ)
Authors Ekici AB, Schweitzer D, Park O, Lorek D, Rautenstrauss B, Krüger G, Friedl W, Uhlhaas S, Bathke K, Heuss D, Kayser C, Grehl H
Reference Neurogenetics 3: 49-50, 2000 (PubMed ID: 11085599 )
PMP22: (3'-splice site) MPZ (P0): (Gly110Asp) GJB1 (Cx32): (Ala39Pro)
Mutations

Title Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).
Authors Engelfried K, Vorgerd M, Hagedorn M, Haas G, Gilles J, Epplen JT, Meins M
Reference BMC Med Genet 7: 53, 2006 (PubMed ID: 16762064 )
MFN2: (Gly127Val) (Glu347Val) (Met376Ile) (Arg468His) (Val705Ile) (Leu753fs)
Mutations

Title Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy
Authors Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Martin J-J, Vasserman N, Dierick I, Leung CL, Schagina O, Verpoorten N, Van Impe K, Fedotov V, Dadali E, Auer-Grumbach M, Windpassinger C, Wagner K, Mitrovic Z, Hilton-Jones D, Talbot K et al.
Reference Nat Genet : online pub, 2004 (PubMed ID: 15122254 )
HSPB1: (Arg127Trp) (Ser135Phe) (Arg136Trp) (Thr151Ile) (Pro182Leu)
Mutations

Title Novel mutation of the P0 extracellular domain causes a Déjérine-Sottas syndrome.
Authors Fabrizi GM, Cavallaro T, Morbin M, SimonatiA, Taioli F, Rizzuto N
Reference J Neurol Neurosurg Psychiatry 66: 386-389, 1999 (PubMed ID: 10084540 )
MPZ (P0): (Cys127Tyr)
Mutations

Title Divergent phenotypes associated with missense mutations of PMP22.
Authors Fabrizi GM, Cavallaro T, Simonati A, Rigatelli F, Pinardi C, Taioli F, Mostacciuolo ML, Rizzuto N
Reference J Peripher Nerv Syst 4: 288-289, 1999
PMP22: (Cys109Arg)
Mutations

Title Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22.
Authors Fabrizi GM, Cavallaro T, Taioli F, Orrico D, Morbin M, Simonati A, Rizzuto N
Reference Neurology 53: 846-851, 1999 (PubMed ID: 10489052 )
PMP22: (Asp37Val)
Mutations

Title Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero.
Authors Fabrizi GM, Taioli F, Cavallaro T, Rigatelli F, Simonati A, Mariani G, Perrone, Rizzuto N
Reference Acta Neuropathol 100: 299-304, 2000 (PubMed ID: 10965800 )
MPZ (P0): (Ser78Leu)
Mutations

Title A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B.
Authors Fabrizi GM, Ferrarini M, Cavallaro T, Jarre L, Polo A, Rizzuto N
Reference Neurology 57: 101-105, 2001 (PubMed ID: 11445635 )
MPZ (P0): (Gly103Glu)
Mutations

Title Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E.
Authors Fabrizi GM, Cavallaro T, Angiari C, Bertolasi L, Cabrini I, Ferrarini M, Rizzuto N
Reference Neurology 62: 1429-1431, 2004 (PubMed ID: 15111691 )
NEFL: (Pro22Ser)
Mutations

Title Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease.
Authors Fabrizi GM, Ferrarini M, Cavallaro T, Cabrini I, Cerini R, Bertolasi L, Rizzuto N. GM, Ferrarini M, Cavallaro T, Cabrini I, Cerini R, Bertolasi L, Rizzuto N.
Reference Neurology 69: 291-295, 2007 (PubMed ID: 17636067 )
DNM2: (Gly533Cys) (Leu566His)
Mutations

Title Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease.
Authors Fairweather N, Bell C, Cochrane S, Chelly J, Wang S, Mostacciuolo ML, Monaco AP, Haites NE
Reference Hum Mol Genet 3: 29-34, 1994 (PubMed ID: 8162049 )
GJB1 (Cx32): (Arg15Gln) (Cys60Phe) (Val63Ile) (His73fs) (Leu144del) (Glu208Lys) (Arg215Trp) (Arg220X)
Mutations

Title Severe X-linked Charcot-Marie-Tooth neuropathy due to new mutations [G59R(G-C), W44X(G-A)] in the connexin 32 gene.
Authors Felice KJ, Seltzer WK
Reference Eur Neurol 44: 61-63, 2000 (PubMed ID: 10894999 )
GJB1 (Cx32): (Trp44X) (Gly59Arg)
Mutations

Title Novel C59T leader peptide mutation in the MPZ gene associated with late-onset, axonal, sensorimotor polyneuropathy.
Authors Finsterer J, Miltenberger G, Rauschka H, Janecke A
Reference Eur J Neurol 13: 1149-1152, 2006 (PubMed ID: 16987171 )
MPZ (P0): (Ser20Phe)
Mutations

Title Mutation in the nerve-specific 5' non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family.
Authors Flagiello L, Cirigliano V, Strazzullo M, Cappa V, Ciccodicola A, D'Esposito M, Torrente I, Werner R, Di Iorio G, Rinaldi M, Dallapiccola B, Forabosco A, Ventruto V, D'Urso M
Reference Hum Mutat 12: 361, 1998
GJB1 (Cx32): (-)
Mutations

Title New mutation of the MPZ gene in a family with the Dejerine-Sottas disease phenotype.
Authors Floroskufi P, Panas M, Karadima G, Vassilopoulos D
Reference Muscle Nerve 35: 667-669, 2007 (PubMed ID: 17143884 )
MPZ (P0): (Ile30Thr)
Mutations

Title Identification of a novel connexin 32 mutation associated with X-linked dominant Charcot-Marie-Tooth disease.
Authors Gabern JG, Chen K, Kant J
Reference Neurology 46: A210, 1996
GJB1 (Cx32): (His94Tyr)
Mutations

Title Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations.
Authors Gabreëls-Festen AA, Bolhuis PA, Hoogendijk JE, Valentijn LJ, Eshuis EJ, Gabreëls FJ
Reference Acta Neuropathol (Berl) 90: 645-649, 1996 (PubMed ID: 8615087 )
PMP22: (Leu105Arg)
Mutations

Title Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease.
Authors Gabreëls-Festen AA, Hoogendijk JE, Meijerink PH, Gabreëls FJ, Bolhuis PA, van Beersum S, Kulkens T, Nelis E, Jennekens FG, de Visser M, van Engelen BG, Van Broeckhoven C, Mariman EC
Reference Neurology 47: 761-765, 1996 (PubMed ID: 8797476 )
MPZ (P0): (Thr34Ile) (Arg98Cys) (Arg98His) (Lys130Arg) (Ile135Leu)
Mutations

Title A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.
Authors Georgiou DM, Zidar J, Korosec M, Middleton LT, Kyriakides T, Christodoulou K
Reference Neurogenetics 4: 93-93, 2002 (PubMed ID: 12481988 )
NEFL: (Pro22Ser)
Mutations

Title A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease.
Authors Georgiou DM, Nicolaou P, Chitayat D, Koutsou P, Babul-Hirji R, Vajsar J, Murphy J, Christodoulou K
Reference Can J Neurol Sci 33: 311-316, 2006 (PubMed ID: 17001820 )
GDAP1: ([Thr147fs]+[Thr147fs])
Mutations

Title Hereditary sensory neuropathy type 1 in a Portuguese family-electrodiagnostic and autonomic nervous system studies.
Authors Geraldes R, de Carvalho M, Santos-Bento M, Nicholson G
Reference J Neurol Sci 227: 35-38, 2004 (PubMed ID: 15546589 )
SPTLC1: (Cys133Tyr)
Mutations

Title Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1.
Authors Giannini A, Pinto AM, Rossetti G, Prandi E, Tiziano D, Brahe C, Nardocci N.
Reference Intensive Care Med 32: 1851-1855, 2006 (PubMed ID: 16964485 )
IGHMBP2: ([Leu40fs]+[Gly354Ser]) ([Arg130X]+[Arg130X])
Mutations

Title Coexistent hereditary and inflammatory neuropathy.
Authors Ginsberg L, Malik O, Kenton AR, Sharp D, Muddle JR, Davis MB, Winer JB, Orrell RW, King RH
Reference Brain 127: 193-202, 2004 (PubMed ID: 14607795 )
GJB1 (Cx32): (Cys173Arg)
Mutations

Title A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.
Authors Goizet C, Yaou RB, Demay L, Richard P, Bouillot S, Rouanet M, Hermosilla E, Le Masson G, Lagueny A, Bonne G, Ferrer X
Reference J Med Genet 41: e29, 2004 (PubMed ID: 14985400 )
LMNA: (Glu33Asp)
Mutations

Title Polymorphism
Authors Gokhale D
Reference personal data : , 2001
MPZ (P0): (Ala76Val)
Mutations

Title A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes.
Authors Gooding R, Colomer J, King R, Angelicheva D, Marns L, Parman Y, Chandler D, Bertranpetit J, Kalaydjieva L
Reference J Med Genet 42: e69, 2005 (PubMed ID: 16326826 )
SH3TC2 (KIAA1985): ([Arg1109X]+[Arg1109X])
Mutations

Title A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis.
Authors Greco A, Villa R, Tubino B, Romano L, Penso D, Pierotti MA
Reference Am J Hum Genet 64: 1207-1210, 1999 (PubMed ID: 10090906 )
NTRK1 (TRKA): ([Arg780Pro]+[Arg780Pro])
Mutations

Title Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
Authors Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schoneborn S, Zerres K, Hubner C
Reference Nat Genet 29: 75-77, 2001 (PubMed ID: 11528396 )
IGHMBP2: (-) ([Gln41X]+[Val225fs]) (Tyr60Tyr) ([His213Arg]+[His213Arg]) ([Leu236X]+[Leu236X]) ([Glu514Lys]+[Glu514Lys]) ([Val580Ile]+[Val580Ile]) ([5'-splice site]+[5'-splice site]) ([Thr879Lys]+[Thr879Lys]) (Thr879Lys) (-)
Mutations

Title Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Authors Grohmann K, Varon R, Stolz P, Schuelke M, Janetzki C, Bertini E, Bushby K, Muntoni F, Ouvrier R, Van Maldergem L, Goemans NM, Lochmuller H, Eichholz S, Adams C, Bosch F,Steglich C, Guenther UP,Zerres K, Rudnik-Schoneborn S, Hubner C
Reference Ann Neurol 54: 719-724, 2003 (PubMed ID: 14681881 )
IGHMBP2: ([Lys38fs]+[Lys38fs]) ([Gln41fs]+[Arg130X]) ([Cys46X]+[Gln551fs]) ([Arg130X]+[Glu382Lys]) ([Arg147X]+[Arg788X]) ([Arg147X]+[Cys496X]) ([Leu192Pro]+[Leu426Pro]) ([Thr221Ala]+[Arg605X]) ([Leu236X]+[Cys241Arg]) ([Leu236X]+[Glu514Lys]) ([Lys328fs]+[Lys328fs]) ([Glu334Lys]+[Glu334Lys]) ([Leu361Pro]+[Leu577Pro]) ([Leu364Pro]+[Pro812fs]) ([Cys496X]+[Cys496X]) ([Cys496X]+[Asn583Ile]) ([Cys496X]+[Arg603His]) ([Asp565Asn]+[Leu577Pro]) ([Lys572del]+[Asp974Glu]) ([Gly586Cys]+[Arg637Cys]) ([Arg788X]+[?])
Mutations

Title Mutation analysis of the MPZ and PMP22 genes in Croatian patients.
Authors Grskovic B, Ferencak G, Rukavina AS, Karija M, Furac I, Kubat M
Reference Clin Chem Lab Med 40: 559-562, 2002 (PubMed ID: 12211648 )
PMP22: (Thr118Met) MPZ (P0): (Ser8Ser)
Mutations

Title Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I
Authors Guelly C, Zhu PP, Leonardis L, Papic L, Zidar J, Schabhüttl M, Strohmaier H, Weis J, Strom TM, Baets J, Willems J, De Jonghe P, Reilly MM, Fröhlich E, Hatz M, Trajanoski S, Pieber TR, Janecke AR, Blackstone C, Auer-Grumbach M
Reference American Journal of Human Genetics 88: 99-105, 2011 (PubMed ID: 21194679 )
ATL1: (Glu66Gln) (Val326fs) (Asn355Lys)
Mutations

Title Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1.
Authors Guenther UP, Schuelke M, Bertini E, D'Amico A, Goemans N, Grohmann K, Hubner C, Varon R
Reference Hum Genet 115: 319-326, 2004 (PubMed ID: 15290238 )
IGHMBP2: ([Lys328fs]+[complex rearrangement]) ([Phe369Leu]+[Gly86_Thr353del])
Mutations

Title A new mutation of IGHMBP2 gene.
Authors Guenther UP, Schuelke M, Grohmann K, Varon R.
Reference Pediatr Neurol 34: 168, 2006 (PubMed ID: 16458836 )
IGHMBP2: ([Thr879Lys]+[Thr879Lys])
Mutations

Title Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.
Authors Guenther UP, Varon R, Schlicke M, Dutrannoy V, Volk A, Hübner C, von Au K, Schuelke M.
Reference Hum Mutat 28: 808-815, 2007 (PubMed ID: 17431882 )
IGHMBP2: ([Leu17Pro]+[Cys496X]) ([Gln55X]+[Gln657X]) ([Arg130X]+[Arg581Ser]) ([Gln206X]+[Leu626fs]) ([Thr221fs]+[Leu472Pro]) ([Gln302X]+[Trp386Arg]) ([5'-splice site mutation]+[Leu361Pro]) ([Trp386Arg]+[Arg605X]) ([Thr407fs]+[Arg570X]) ([Ala355fs]+[His445Pro])
Mutations

Title A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.
Authors Guilbot A, Williams A, Ravise N, Verny C, Brice A, Sherman DL, Brophy PJ, LeGuern E, Delague V, Bareil C, Megarbane A, Claustres M
Reference Hum Mol Genet 10: 415-421, 2001 (PubMed ID: 11157804 )
PRX: ([Arg196X]+[Arg196X])
Mutations

Title Congenital insensitivity to pain with anhidrosis in Taiwan: a morphometric and genetic study.
Authors Guo YC, Liao KK, Soong BW, Tsai CP, Niu DM, Lee HY, Lin KP
Reference Eur Neurol 51: 206-214, 2004 (PubMed ID: 15159601 )
NTRK1 (TRKA): (-)
Mutations

Title A point mutation in codon 3 of connexin-32 is associated with X-linked Charcot-Marie-Tooth neuropathy.
Authors Gupta S, Benstead T, Neumann P, Guernsey D
Reference Hum Mutat 8: 375-376, 1996 (PubMed ID: 8956046 )
GJB1 (Cx32): (Trp3Ser)
Mutations

Title Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease.
Authors Gutierrez A, England JD, Sumner AJ, Ferer S, Warner LE, Lupski JR, Garcia CA
Reference Muscle Nerve 23: 182-188, 2000 (PubMed ID: 10639608 )
GJB1 (Cx32): (Arg15Trp)
Mutations

Title Genotype/Phenotype correlations in X-linked dominant Charcot-Marie-Tooth disease.
Authors Hahn AF, Bolton CF, White CM, Brown WF, Tuuha SE, Tan CT, Ainsworth PJ
Reference Ann N Y Acad Sci 883: 366-382, 1999 (PubMed ID: 10586261 )
GJB1 (Cx32): (Arg15Gln) (Ser26Leu) (Val95Met) (Asp113fs) (Val139Met) (Glu208Lys) (Cys217X)
Mutations

Title Pathological findings in the X-linked form of Charcot-Marie-Tooth disease: a morphometric and ultrastructural analysis.
Authors Hahn AF, Ainsworth PJ, Bolton CF, Bilbao JM, Vallat JM
Reference Acta Neuropathol 101: 129-139, 2001 (PubMed ID: 11271367 )
GJB1 (Cx32): (Thr55Ile) (Pro87Leu) (Arg183Cys)
Mutations

Title 3rd workshop of the European CMT consortium: 54th ENMC international workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies, 28-30 November 1997, Naarden, The Netherlands.
Authors Haites NE, Nelis E, Van Broeckhoven C
Reference Neuromuscul Disord 8: 591-603, 1998 (PubMed ID: 10093067 )
PMP22: (Leu19Pro) (Trp61X) (Thr118Met) MPZ (P0): (Val32Phe) (Ser54Cys) (Asp75fs) (Ser78Leu) (Tyr82Cys) (Arg98Cys) (Ile99Thr) (Ile112Thr) (Asp128Glu) (Thr143Met) (Ser226fs) GJB1 (Cx32): (Thr8Pro) (Ser11Gly) (Arg15Gln) (Arg22X) (Arg22Gln) (Ser26X) (Ser26Leu) (Ile30Asn) (Phe31_Arg32insIlePhe) (Ala39Pro) (Ala39Val) (Val43Met) (Gly59Cys) (Cys60Phe) (Val63Ile) (Asp66del) (Ile71fs) (Arg75Gln) (Leu81Phe) (Leu83Pro) (Val95Met) (Met105fs) (Arg107Trp) (Trp132fs) (Tyr135Cys) (Val139Met) (Phe149Ile) (Pro158Ser) (Arg164Trp) (Cys173Arg) (Glu186Lys) (Glu208Lys) (Glu254fs)
Mutations

Title Axon damage in CMT due to mutation in myelin protein P0
Authors Hanemann CO, Gabreels-Festen AA, De Jonghe P
Reference Neuromuscul Disord 11: 753-756, 2001 (PubMed ID: 11595518 )
MPZ (P0): (Thr124Met)
Mutations

Title Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.
Authors Hanemann CO, Bergmann C, Senderek J, Zerres K, Sperfeld AD
Reference Arch Neurol. 60: 605-609, 2003 (PubMed ID: 12707076 )
GJB1 (Cx32): (Glu102del)
Mutations

Title
Authors Harvey JF
Reference personal data : , 1998
GJB1 (Cx32): (Arg15Trp) (Glu186Lys)
Mutations

Title Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.
Authors Hattori N, Yamamoto M, Yoshihara T, Koike H, Nakagawa M, Yoshikawa H, Ohnishi A, Hayasaka K, Onodera O, Baba M, Yasuda H, Saito T, Nakashima K, Kira J, Kaji R, Oka N, Sobue G; Study Group for Hereditary Neuropathy in Japan
Reference Brain 126: 134-151, 2003 (PubMed ID: 12477701 )
MPZ (P0): (Asp35Tyr) GJB1 (Cx32): (Thr55Ala) (Arg142Trp) (Cys201Tyr) (Ala282fs)
Mutations

Title De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
Authors Hayasaka K, Himoro M, Sawaishi Y, Nanao K, Takahashi T, Takada G, Nicholson GA, Ouvrier RA, Tachi N
Reference Nat Genet 5: 266-268, 1993 (PubMed ID: 7506095 )
MPZ (P0): (Ser63Cys) (Gly167Arg)
Mutations

Title Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.
Authors Hayasaka K, Takada G, Ionasescu VV
Reference Hum Mol Genet 2: 1369-1372, 1993 (PubMed ID: 7694726 )
MPZ (P0): (Ile30Met)
Mutations

Title Mutation of the myelin P0 gene in Charcot-Marie-tooth neuropathy type 1.
Authors Hayasaka K, Ohnishi A, Takada G, Fukushima Y, Murai Y
Reference Biochem Biophys Res Commun 194: 1317-1322, 1993 (PubMed ID: 7688964 )
MPZ (P0): (Arg98His)
Mutations

Title Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.
Authors Hayasaka K, Himoro M, Sato W, Takada G, Uyemura K, Shimizu N, Bird TD, Conneally PM, Chance PF
Reference Nat Genet 5: 31-34, 1993 (PubMed ID: 7693129 )
MPZ (P0): (Asp90Glu) (Lys96Glu)
Mutations

Title New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1.
Authors Himoro M, Yoshikawa H, Matsui T, Mitsui Y, Takahashi M, Kaido M, Nishimura T, Sawaishi Y, Takada G, Hayasaka K
Reference Biochem Mol Biol Int 31: 169-173, 1993 (PubMed ID: 7505151 )
MPZ (P0): (Tyr82Cys)
Mutations

Title SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma.
Authors Hirano R, Takashima H, Umehara F, Arimura H, Michizono K, Okamoto Y, Nakagawa M, Boerkoel CF, Lupski JR, Osame M, Arimura K
Reference Neurology 63: 577-580, 2004 (PubMed ID: 15304601 )
SBF2 (MTMR13): ([Arg487X]+[Arg487X])
Mutations

Title Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family.
Authors Hisama FM
Reference Arch Neurol. 62: 135-138, 2005 (PubMed ID: 15642860 )
MPZ (P0): (Arg67Pro)
Mutations

Title Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes.
Authors Hodapp JA, Carter GT, Lipe HP, Michelson SJ, Kraft GH, Bird TD.
Reference Arch Neurol 63: 112-117, 2006 (PubMed ID: 16401743 )
GJB1 (Cx32): (Arg220Gly + CMT1A duplication)
Mutations

Title Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin.
Authors Houlden H, King RH, Wood NW, Thomas PK, Reilly MM
Reference Brain 124: 907-915, 2001 (PubMed ID: 11335693 )
MTMR2: (Thr3Lys) ([Gly103Glu]+[Gly103Glu]) ([Thr108fs]+[Thr108fs]) (Thr377Thr) (Thr411Thr)
Mutations

Title A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V.
Authors Houlden H, King RH, Hashemi-Nejad A, Wood NW, Mathias CJ, Reilly M, Thomas PK
Reference Ann Neurol 49: 521-525, 2001 (PubMed ID: 11310631 )
NTRK1 (TRKA): ([Tyr359Cys]+[Tyr359Cys])
Mutations

Title A novel RAB7 mutation associated with ulcero-mutilating neuropathy.
Authors Houlden H, King RH, Muddle JR, Warner TT, Reilly MM, Orrell RW, Ginsberg L
Reference Ann Neurol 56: 586-590, 2004 (PubMed ID: 15455439 )
RAB7: (Asn161Thr)
Mutations

Title Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction.
Authors Houlden H, Girard M, Cockerell C, Ingram D, Wood NW, Goossens M, Walker RW, Reilly MM
Reference Ann Neurol 56: 730-734, 2004 (PubMed ID: 15470753 )
GJB1 (Cx32): (-)
Mutations

Title Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).
Authors Houlden H, King R, Blake J, Groves M, Love S, Woodward C, Hammans S, Nicoll J, Lennox G, O'Donovan DG, Gabriel C, Thomas PK, Reilly MM
Reference Brain 129: 411-425, 2006 (PubMed ID: 16364956 )
SPTLC1: (Cys133Trp)
Mutations

Title New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy.
Authors Houlden H, Groves M, Miedzybrodzka Z, Roper H, Willis T, Winer J, Cole G, Reilly MM.
Reference J Neurol Neurosurg Psychiatry 78: 1267-1270, 2007 (PubMed ID: 17578852 )
GAN: ([Ala51Pro]+[Ala51Pro]) ([Tyr71X]+[Tyr71X]) ([Pro315Leu]+[Phe518fs]) ([Trp502X]+[Trp502X])
Mutations

Title The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
Authors Howard HC, Mount DB, Rochefort D, Byun N, Dupre N, Lu J, Fan X, Song L, Riviere JB, Prevost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA
Reference Nat Genet 32: 384-392, 2002 (PubMed ID: 12368912 )
SLC12A6 (KCC3): ([Arg675X]+[Arg675X]) ([Thr813fs]+[Thr813fs]) ([Thr813fs]+[Phe529fs]) ([Arg1011X]+[Arg1011X])
Mutations

Title Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
Authors Huehne K, Benes V, Thiel C, Kraus C, Kress W, Hoeltzenbein M, Ploner CJ, Kotzian J, Reis A, Rott HD, Rautenstrauss BW
Reference Hum Mutat 21: 100, 2003 (PubMed ID: 12497641 )
PMP22: (Val65Phe) MPZ (P0): (Ser78Leu) (Gly110Asp) GJB1 (Cx32): (Tyr7_Thr8delinsSer) (Ser138Asn) (Arg164Gln) (Pro172Ala) (Asn205Ser)
Mutations

Title Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis
Authors Huehne K, Zweier C, Raab K, Odent S, Bonnaure-Mallet M, Sixou JL, Landrieu P, Goizet C, Sarlangue J, Baumann M, Eggermann T, Rauch A, Ruppert S, Stettner GM, Rautenstrauss B
Reference Neuromuscular Disorders 18: 159-166, 2008 (PubMed ID: 18077166 )
NTRK1 (TRKA): ([Ser241fs]+[Ser241fs]) ([Gln558X]+[Leu717Arg]) ([Ile572Ser]+[Ile572Ser]) (-)
Mutations

Title Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease.
Authors Hunter M, Bernard R, Freitas E, Boyer A, Morar B, Martins IJ, Tournev I, Jordanova A, Guergelcheva V, Ishpekova B, Kremensky I, Nicholson G, Schlotter B, Lochmuller H, Voit T, Colomer J, Thomas PK, Levy N, Kalaydjieva L
Reference Hum Mutat 22: 129-135, 2003 (PubMed ID: 12872253 )
NDRG1: ([Arg148X]+[Arg148X]) ([3'-splice site]+[3'-splice site])
Mutations

Title Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease.
Authors Ikegami T, Ikeda H, Aoyama M, Matsuki T, Imota T, Fukuuchi Y, Amano T, Toyoshima I, Ishihara Y, Endoh H, Hayasaka K
Reference Hum Genet 102: 294-298, 1998 (PubMed ID: 9544841 )
PMP22: (Leu80fs) (Gly150Cys)
Mutations

Title A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
Authors Ikegami T, Nicholson G, Ikeda H, Ishida A, Johnston H, Wise G, Ouvrier R, Hayasaka K
Reference Biochem Biophys Res Commun 222: 107-110, 1998 (PubMed ID: 8630052 )
MPZ (P0): (Phe64del)
Mutations

Title Novel mutation of the myelin Po gene in a pedigree with Charcot-Marie-Tooth disease type 1B.
Authors Ikegami T, Ikeda H, Mitsui T, Hayasaka K, Ishii S
Reference Am J Med Genet 71: 246-248, 1998 (PubMed ID: 9217235 )
MPZ (P0): (Gly93Glu)
Mutations

Title De novo mutation of the myelin Po gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III): two amino acid insertion after Asp118.
Authors Ikegami T, Nicholson G, Ikeda H, Ishida A, Johnston H, Wise G, Ouvrier R, Hayasaka K
Reference Hum Mutat Suppl1: S103-105, 1997 (PubMed ID: 9452055 )
MPZ (P0): (Asp118_Tyr119insPheTyr)
Mutations

Title Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1.
Authors Ikegami T, Lin C, Kato M, Itoh A, Nonaka I, Kurimura M, Hirayabashi H, Shinohara Y, Mochizuki A, Hayasaka K
Reference Am J Med Genet 80: 352-355, 1998 (PubMed ID: 9856562 )
GJB1 (Cx32): (Val37Met) (Gln57His) (Arg142Gln) (Pro172Leu) (Val177Ala)
Mutations

Title Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.
Authors Indo Y, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I
Reference Nat Genet 13: 485-488, 1996 (PubMed ID: 8696348 )
NTRK1 (TRKA): ([Arg554fs]+[Arg554fs]) ([Gly577Arg]+[Gly577Arg]) ([5'-splice site]+[5'-splice site])
Mutations

Title Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.
Authors Indo Y, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I
Reference Hum Mutat 18: 308-318, 2001 (PubMed ID: 11668614 )
NTRK1 (TRKA): ([Ser131fs]+[Ser131fs]) ([Gln176X]+[Gln176X]) ([5'-splice site]+[Val715Ala]) ([3'-splice site]+[3'-splice site]) ([Arg508fs]+[Arg508fs]) ([Val511fs]+[Val511fs]) ([Tyr757X]+[Arg761Trp]) ([Arg761Trp]+[Arg761Trp])
Mutations

Title Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation.
Authors Inoue K, Tanabe Y, Lupski JR
Reference Ann Neurol 46: 313-318, 1999 (PubMed ID: 10482261 )
SOX10: (X467del)
Mutations

Title Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation.
Authors Inoue K, Shilo K, Boerkoel CF, Crowe C, Sawady J, Lupski JR, Agamanolis DP
Reference Ann Neurol 52: 836-842, 2002 (PubMed ID: 12447940 )
SOX10: (Gln250X)
Mutations

Title Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene.
Authors Ionasescu VV, Ionasescu R, Searby C, Neahring R
Reference Neurology 45: 1766-1767, 1997 (PubMed ID: 7675244 )
PMP22: (Ser72Leu)
Mutations

Title Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene.
Authors Ionasescu VV, Searby CC, Ionasescu R, Reisin R, Ruggieri V, Arberas C
Reference Muscle Nerve 20: 1308-1310, 1995 (PubMed ID: 9324088 )
PMP22: (Gly94fs)
Mutations

Title Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene.
Authors Ionasescu VV, Searby CC, Ionasescu R, Chatkupt S, Patel N, Koenigsberger R
Reference Muscle Nerve 20: 97-99, 1997 (PubMed ID: 8995589 )
PMP22: (Gly150Asp)
Mutations

Title Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.
Authors Ionasescu VV, Searby C, Greenberg SA
Reference J Med Genet 33: 1048-1049, 1996 (PubMed ID: 9004143 )
PMP22: (Ser72Leu)
Mutations

Title Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy.
Authors Ionasescu VV, Searby C, Ionasescu R, Neuhaus IM, Werner R
Reference Neurology 47: 541-544, 1996 (PubMed ID: 8757034 )
GJB1 (Cx32): (-) (-)
Mutations

Title Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy.
Authors Ionasescu V, Ionasescu R, Searby C
Reference Am J Med Genet 63: 486-491, 1996 (PubMed ID: 8737658 )
GJB1 (Cx32): (Trp3Arg) (Trp3Ser) (Arg22X) (Arg22Gln) (Trp77Ser) (Gln80Arg) (Glu102Gly) (His111_His116del) (Arg142Trp) (Arg164Trp) (Glu186X) (Glu186fs) (Cys217X) (Arg220X) (Arg265fs)
Mutations

Title X-linked Charcot-Marie-Tooth disease and connexin32.
Authors Ionasescu VV
Reference Cell Biol Int 22: 807-813, 1998 (PubMed ID: 10873293 )
GJB1 (Cx32): (Pro70Ala) (Val95Met) (Phe180Ser)
Mutations

Title Central nervous system involvement in X-linked dominant Charcot-Marie-Tooth disease.
Authors Ionasescu VV
Reference J Peripher Nerv Syst 4: 291, 1999
GJB1 (Cx32): (Arg142Trp)
Mutations

Title Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.
Authors Irobi J, Van Impe K, Seeman P, Jordanova A, Dierick I, Verpoorten N, Michalik A, De Vriendt E, Jacobs A, Van Gerwen V, Vennekens K, Mazanec R, Tournev I, Hilton-Jones D, Talbot K, Kremensky I, Van Den Bosch L, Robberecht W, Vandekerckhove J et al.
Reference Nat Genet : online pub, 2004 (PubMed ID: 15122253 )
HSPB8: (Lys141Glu) (Lys141Asn)
Mutations

Title Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.
Authors James PA, Cader MZ, Muntoni F, Childs AM, Crow YJ, Talbot K
Reference Neurology. 2006 Nov 14;67(9):1710-2 67: 1710-1712, 2006 (PubMed ID: 17101916 )
GARS: (Ile280Phe) (Ser581Leu) (Gly598Ala)
Mutations

Title Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).
Authors Janssen EA, Kemp S, Hensels GW, Sie OG, de Die-Smulders CE, Hoogendijk JE, de Visser M, Bolhuis PA
Reference Hum Genet 99: 501-505, 1997 (PubMed ID: 9099841 )
GJB1 (Cx32): (Arg15Trp) (Arg22X) (Val63Ile) (Ser85Cys) (Pro87Ser) (Leu89Pro) (Val139Met) (Gly199Arg)
Mutations

Title Dejerine-Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene.
Authors Jen J, Baloh RH, Ishiyama A, Baloh RW
Reference J Neurol Sci 237: 21-24, 2005 (PubMed ID: 15992829 )
PMP22: (Leu71Pro)
Mutations

Title Point mutations of Cx32, MPZ and PMP22 genes in Chinese Charcot-Marie-Tooth disease.
Authors Jianfeng X, Beisha T, Jiahui X, Boyong Z, Shen L, Guangjie X
Reference personal data : , 1999
GJB1 (Cx32): (Arg15Gln) (Arg164Gln) (Arg183His) (Thr188Ala)
Mutations

Title A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.
Authors Joo IS, Ki CS, Joo SY, Huh K, Kim JW
Reference Neuromuscul Disord 14: 325-328, 2004 (PubMed ID: 15099592 )
PMP22: (Thr23Arg)
Mutations

Title Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
Authors Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SC, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman
Reference Brain 126: 590-597, 2003 (PubMed ID: 12566280 )
NEFL: ([Glu7Lys]+[Pro8Arg]) (Pro8Gln) (Pro8Arg) (Pro8Leu) (Ser40Ser) (Leu64Leu) (Glu90Lys) (Asn97Ser) (Gln141Gln) (Leu223Leu) (Tyr240Tyr) (Ser404Ser) (Asp468Asn) (Ala486Ala) (Glu527del)
Mutations

Title Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.
Authors Jordanova A, Irobi J, Thomas FP, Van Dijck P, Meerschaert K, Dewil M, Dierick I, Jacobs A, De Vriendt E, Guergueltcheva V, Rao CV, Tournev I, Gondim FA, D'Hooghe M, Van Gerwen V,Callaerts P, Van Den Bosch L, Timmermans JP, Robberecht W, et al.
Reference Nature Genet 38: 197-202, 2006 (PubMed ID: 16429158 )
YARS: (Gly41Arg) (Val153_Val156del) (Glu196Lys)
Mutations

Title Autosomal Recessive Axonal Form of Charcot-Marie-Tooth Disease Caused by Compound Heterozygous 3'-Splice Site and Ser130Cys Mutation in the GDAP1 Gene.
Authors Kabzinska D, Kochanski A, Drac H, Ryniewicz B, Rowinska-Marcinska K, Hausmanowa-Petrusewicz I
Reference Neuropediatrics 36: 206-209, 2005 (PubMed ID: 15944907 )
GDAP1: ([3'-splice site mutation]+[Ser130Cys])
Mutations

Title Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene.
Authors Kabzinska D, Drac H, Sherman DL, Kostera-Pruszczyk A, Brophy PJ, Kochanski A, Hausmanowa-Petrusewicz I
Reference Neurology. 2006 Mar 14;66(5):745-7. 66: 745-747, 2006 (PubMed ID: 16534116 )
PRX: (Ser399fs)
Mutations

Title A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease.
Authors Kabzinska D, Kochanski A, Drac H, Rowinska-Marcinska K, Ryniewicz B, Pedrola L, Palau F, Hausmanowa-Petrusewicz I
Reference J Neurol Sci 241: 7-11, 2006 (PubMed ID: 16343542 )
GDAP1: ([Met116Thr]+[Met116Thr])
Mutations

Title Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene.
Authors Kabzinska D, Drac H, Rowinska-Marcinska K, Fidzianska A, Kochanskii A, Hausmanowa-Petrusewicz I
Reference Acta Myol 25: 34-37, 2006 (PubMed ID: 17039978 )
GDAP1: ([Leu239Phe]+[Leu239Phe])
Mutations

Title Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models.
Authors Kabzinska D, Perez-Olle R, Goryunov D, Drac H, Ryniewicz B, Hausmanowa-Petrusewicz I, Kochanski A, Liem RK
Reference J Peripher Nerv Syst 11: 225-231, 2006 (PubMed ID: 16930284 )
NEFL: (Ile213Met)
Mutations

Title Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene.
Authors Kabzinska D, Saifi GM, Drac H, Rowinska-Marcinska K, Hausmanowa-Petrusewicz I, Kochanski A, Lupski JR
Reference Acta Myologica 16: 108-111, 2007
GDAP1: ([Pro153Leu]+[Pro153Leu])
Mutations

Title Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene.
Authors Kabzinska D, Korwin-Piotrowska T, Drechsler H, Drac H, Hausmanowa-Petrusewicz I, Kochanski A.
Reference Am J Med Genet A 143: 2196-2199, 2007 (PubMed ID: 17663472 )
MPZ (P0): (Pro105Thr)
Mutations

Title Clinical and genetic analysis of CMT1B in a Nigerian family.
Authors Kakar R, Ma W, Dutra A, Seltzer WK, Grewal RP
Reference Muscle Nerve 27: 628-630, 2003 (PubMed ID: 12707985 )
MPZ (P0): (Ser78Trp)
Mutations

Title N-myc Downstream-Regulated Gene 1 Is mutated in hereditary motor and sensory neuropathy-Lom
Authors Kalaydjieva L, Gresham D, Gooding R, Heather L, Baas F, de Jonge R, Blechschmidt K, Angelicheva D, Chandler D, Worsley P, Rosenthal A, King RHM, Thomas PK
Reference Am J Hum Genet 67: 47-58, 2000 (PubMed ID: 10831399 )
NDRG1: ([Arg148X]+[Arg148X])
Mutations

Title A V38A mutation in X-linked Charcot-Marie-Tooth neuropathy with unusual clinical features.
Authors Karadima G, Panas M, Floroskufi P, Kalfakis N, Vassilopoulos D
Reference J Neurol 251: 222-223, 2004 (PubMed ID: 14991359 )
GJB1 (Cx32): (Val38Ala)
Mutations

Title Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment.
Authors Kawakami H, Inoue K, Sakakihara I, Nakamura S
Reference Neurology 59: 923-926, 2002 (PubMed ID: 12297581 )
GJB1 (Cx32): (Asn61_Ser62insTyrLeuGlnProGlyCysAsn)
Mutations

Title
Authors
Reference personal data : , 2007
GJB1 (Cx32): (Val189_Phe190insLeuThrVal)
Mutations

Title Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.
Authors Kijima K, Numakura C, Shirahata E, Sawaishi Y, Shimohata M, Igarashi S, Tanaka T, Hayasaka K
Reference J Hum Genet 49: 376-379, 2004 (PubMed ID: 15197604 )
PRX: ([Arg1070X]+[Arg1070X])
Mutations

Title Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.
Authors Kijima K, Numakura C, Izumino H, Umetsu K, Nezu A, Shiiki T, Ogawa M, Ishizaki Y, Kitamura T, Shozawa Y, Hayasaka K
Reference Hum Genet 116: 23-27, 2005 (PubMed ID: 15549395 )
MFN2: (Arg94Gln) (Phe223Leu) (Thr236Met) (Val244Met) (Phe284Tyr) (Lys357Asn) (Glu424Gly)
Mutations

Title Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy.
Authors Kijima K, Numakura C, Goto T, Takahashi T, Otagiri T, Umetsu K, Hayasaka K
Reference J Hum Genet 50: 473-476, 2005 (PubMed ID: 16155736 )
HSPB1: (Pro182Ser)
Mutations

Title Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis.
Authors Kilfoyle DH, Dyck PJ, Wu Y, Litchy WJ, Klein DM, Dyck PJ, Kumar N, Cunningham JM, Klein CJ
Reference J Neurol Neurosurg Psychiatry 77: 963-966, 2006 (PubMed ID: 16844954 )
MPZ (P0): (His39Pro)
Mutations

Title Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis
Authors Kilic SS, Ozturk R, Sarisozen B, Rotthier A, Baets J, Timmerman V
Reference Neurogenetics 10: 161-165, 2009 (PubMed ID: 19089473 )
NTRK1 (TRKA): (-)
Mutations

Title Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).
Authors Kim HJ, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW
Reference Am J Hum Genet 81: 552-558, 2007 (PubMed ID: 17701900 )
PRPS1: (Glu43Asp) (Met115Thr)
Mutations

Title SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies.
Authors Klein CJ, Wu Y, Kruckeberg KE, Hebbring SJ, Anderson SA, Cunningham JM, Dyck PJ, Klein DM, Thibodeau SN, Dyck PJ
Reference J Neurol Neurosurg Psychiatry 76: 1022-1024, 2005 (PubMed ID: 15965219 )
SPTLC1: (Cys133Trp)
Mutations

Title A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.
Authors Kleopa KA, Georgiou DM, Nicolaou P, Koutsou P, Papathanasiou E, Kyriakides T, Christodoulou K
Reference Neurogenetics 5: 171-175, 2004 (PubMed ID: 15205993 )
PMP22: (Ser22Phe)
Mutations

Title Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.
Authors Kleopa KA, Zamba-Papanicolaou E, Alevra X, Nicolaou P, Georgiou DM, Hadjisavvas A, Kyriakides T, Christodoulou K
Reference Neurology 66: 396-402, 2006 (PubMed ID: 16476939 )
GJB1 (Cx32): (Val 140Glu) (Leu143Pro)
Mutations

Title X-linked Charcot-Marie-Tooth disease with a new mutation (Thr191Ala) in the connexin32.
Authors Kobari M, Irie J, Takizawa K, Yoshihara T, Sobue G
Reference Rinsho Shinkeigaku 40: 896-899, 2000 (PubMed ID: 11257785 )
GJB1 (Cx32): (Thr191Ala)
Mutations

Title Molecular genetic analysis of the GJB1 gene: a study of six mutations.
Authors Kochanski A, Kabzinska D
Reference J Appl Genet 45: 95-100, 2004 (PubMed ID: 14960772 )
GJB1 (Cx32): (Gly110Asp) (Val152Asp) (Lys167Glu) (Arg183His) (Glu208Lys)
Mutations

Title A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease.
Authors Kochanski A, Lofgren A, Jedrzejowska H, Ryniewicz B, Czarny-Ratajczak M, Barciszewska A, Samocko J, Hausmanowa-Petrusewicz I, De Jonghe P, Timmerman V, Latos-Bielenska A
Reference Hum Mutat 17: 157, 2001 (PubMed ID: 11180613 )
GJB1 (Cx32): (Glu208Gly)
Mutations

Title Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.
Authors Kochanski A, Drac H, Jedrzejowska H, Hausmanowa-Petrusewicz I
Reference Eur J Neurol 10: 547-549, 2003 (PubMed ID: 12940837 )
MPZ (P0): (Asn131Lys)
Mutations

Title A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.
Authors Kochanski A, Drac H, Kabzinska D, Hausmanowa-Petrusewicz I
Reference Neuromuscul Disord 14: 229-232, 2004 (PubMed ID: 15036333 )
MPZ (P0): (Thr65Ala)
Mutations

Title An axonal form of Charcot-Marie-Tooth disease with a novel missense mutation in the myelin protein zero gene.
Authors Kochanski A, Kabzinska D, Nowakowski A, Drac H, Hausmanowa-Petrusewicz I
Reference J Peripher Nerv Syst 9: 1-2, 2004 (PubMed ID: 14871447 )
MPZ (P0): (Glu56Lys)
Mutations

Title A novel MPZ gene mutation in congenital neuropathy with hypomyelination.
Authors Kochanski A, Drac H, Kabzinska D, Ryniewicz B, Rowinska-Marcinska K, Nowakowski A, Hausmanowa-Petrusewicz I
Reference Neurology 62: 2122-2123, 2004 (PubMed ID: 15184631 )
MPZ (P0): (Thr124Lys)
Mutations

Title Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.
Authors Kochanski A, Kabzinska D, Drac H, Ryniewicz B, Rowinska-Marcinska K, Hausmanowa-Petrusewicz I
Reference Eur J Paediatr Neurol 8: 221-224, 2004 (PubMed ID: 15261887 )
MPZ (P0): (Leu190fs)
Mutations

Title De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe form of Charcot-Marie-Tooth disease.
Authors Kochanski A, Kabzinska D
Reference Acta Biochim Pol 51: 1047-1050, 2004 (PubMed ID: 15625576 )
PMP22: (Ser72Leu)
Mutations

Title De novo mutation (Arg98-->Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B.
Authors Komiyama A, Ohnishi A, Izawa K, Yamamori S, Ohashi H, Hasegawa O
Reference J Neurol Sci 149: 103-109, 1997 (PubMed ID: 9168174 )
MPZ (P0): (Arg98Cys)
Mutations

Title Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).
Authors Koop O, Schirmacher A, Nelis E, Timmerman V, De Jonghe P, Ringelstein B, Rasic VM, Evrard P, Gärtner J, Claeys KG, Appenzeller S, Rautenstrauss B, Hühne K, Ramos-Arroyo MA, Wörle H, Moilanen JS, Hammans S, Kuhlenbäumer G.
Reference Neuromuscul Disord 17: 624-630, 2007 (PubMed ID: 17587580 )
GAN: (promotor mutation) ([Arg56fs]+[Arg56fs]) ([Tyr89Cys]+[Gly368Arg]) ([Val195Phe]+[5'-splice site mutation]) ([Gly474Arg]+[Arg477X]) ([Arg545His]+[Arg545His])
Mutations

Title A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.
Authors Kovach MJ, Lin JP, Boyadjiev S, Campbell K, Mazzeo L, Herman K, Rimer LA, Frank W, Llewellyn B , Wang Jabs E, Gelber D, Kimonis VE
Reference Am J Hum Genet 64: 1580-1593, 1999 (PubMed ID: 10330345 )
PMP22: (Ala67Pro)
Mutations

Title Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene
Authors Kuhlenbäumer G, Young P, Oberwittler C, Hünermund G, Schirmacher A, Domschke K, Ringelstein B, Stögbauer F
Reference Neurology 58: 1273-1276, 2002 (PubMed ID: 11971098 )
GAN: ([Arg201X]+[Ile423Thr])
Mutations

Title Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
Authors Kuhlenbäumer G, Hannibal MC, Nelis E, Schirmacher A, Verpoorten N, Meuleman J, Watts GD, Vriendt ED, Young P, Stogbauer F, Halfter H, Irobi J, Goossens D, Del-Favero J, Betz BG, Hor H, Kurlemann G, Bird TD, Airaksinen E, Mononen T, Serradell AP, et al.
Reference Nat Genet 37: 1044-1046, 2005 (PubMed ID: 16186812 )
SEPT9: (-) (Arg88Trp) (Ser93Phe)
Mutations

Title Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B.
Authors Kulkens T, Bolhuis PA, Wolterman RA, Kemp S, te Nijenhuis S, Valentijn LJ, Hensels GW, Jennekens FG, de Visser M, Hoogendijk JE, Baas F
Reference Nat Genet 5: 35-39, 1993 (PubMed ID: 7693130 )
MPZ (P0): (Ser63del)
Mutations

Title Phenotypic expression of a Pro 87 to Leu mutation in the connexin 32 gene in a large Swiss family with Charcot-Marie-Tooth neuropathy.
Authors Kuntzer T, Dunand M, Schorderet DF, Vallat JM, Hahn AF, Bogousslavsky J
Reference J Neurol Sci 207: 77-86, 2003 (PubMed ID: 12614935 )
GJB1 (Cx32): (Pro87Leu)
Mutations

Title An epidemiological genetic study of Charcot-Marie-Tooth disease in Western Japan.
Authors Kurihara S, Adachi Y, Wada K, Awaki E, Harada H, Nakashima K
Reference Neuroepidemiology 21: 246-250, 2002 (PubMed ID: 12207153 )
MPZ (P0): (Thr124Met)
Mutations

Title Axonal and demyelinating forms of the MPZ Thr124Met mutation.
Authors Kurihara S, Adachi Y, Wada K, Adachi A, Ohama E, Nakashima K
Reference Acta Neurol Scand 108: 157-160, 2003 (PubMed ID: 12911457 )
MPZ (P0): (Thr124Met)
Mutations

Title Charcot-Marie-Tooth families in Japan with MPZ Thr124Met mutation.
Authors Kurihara S, Adachi Y, Imai C, Araki H, Hattori N, Numakura C, Lin Y, Hayasaka K, Sobue G, Nakashima K
Reference J Neurol Neurosurg Psychiatry 75: 1492-1494, 2004 (PubMed ID: 15377707 )
MPZ (P0): (Thr124Met)
Mutations

Title Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy
Authors Kurth I, Pamminger T, Hennings JC, Soehendra D, Huebner AK, Rotthier A, Baets J, Senderek J, Topaloglu H, Farrell SA, Nürnberg G, Nürnberg P, De Jonghe P, Gal A, Kaether C, Timmerman V, Hübner CA
Reference Nature Genetics 41: 1179-81, 2009 (PubMed ID: 19838196 )
FAM134B: ([Pro7fs]+[Pro7fs]) ([Gln145X]+[Gln145X]) ([5'-splice site]+[5'-splice site]) ([Ser309X]+[Ser309X])
Mutations

Title Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates.
Authors Lafrenière RG, MacDonald ML, Dubé MP, MacFarlane J, O'Driscoll M, Brais B, Meilleur S, Brinkman RR, Dadivas O, Pape T, Platon C, Radomski C, Risler J, Thompson J, Guerra-Escobio AM, Davar G, Breakefield XO, Pimstone SN, Green R, Pryse-Phillips W et al.
Reference Am J Hum Genet 74: 1064-1073, 2004 (PubMed ID: 15060842 )
WNK1/HSN2: ([Glu198fs]+[Glu198fs]) ([Ser307fs]+[Ser307fs]) ([Ser307fs]+[Gln315X]) ([Gln315X]+[Gln315X])
Mutations

Title Peripheral myelin modification in CMT1B correlates with MPZ gene mutations.
Authors Lagueny A, Latour P, Vital A, Rajabally Y, Le Masson G, Ferrer X, Bernard I, Julien J, Vital C, Vandenberghe A
Reference Neuromuscul Disord 9: 361-367, 1999 (PubMed ID: 10545037 )
MPZ (P0): (Arg98His) (Asp109Asn)
Mutations

Title Mild recurrent neuropathy in CMT1B with a novel nonsense mutation in the extracellular domain of the MPZ gene.
Authors Lagueny A, Latour P, Vital A, Le Masson G, Rouanet M, Ferrer X, Vital C, Vandenberghe A
Reference J Neurol Neurosurg Psychiatry 70: 232-235, 2001 (PubMed ID: 11160475 )
MPZ (P0): (Glu71X)
Mutations

Title Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B.
Authors Latour P, Blanquet F, Nelis E, Bonnebouche C, Chapon F, Diraison P, Ollagnon E, Dautigny A, Pham-Dinh D, Chazot G, Boucherat M, Van Broeckhoven C, Vandenberghe A
Reference Hum Mutat 6: 50-54, 1995 (PubMed ID: 7550231 )
MPZ (P0): (Ser78Leu) (Trp101Cys)
Mutations

Title New mutations in the X-linked form of Charcot-Marie-Tooth disease.
Authors Latour P, Fabreguette A, Ressot C, Blanquet-Grossard F, Antoine JC, Calvas P, Chapon F, Corbillon E, Ollagnon E, Sturtz F, Boucherat M, ChazotG, Dautigny A, Pham-Dinh D, Vandenberghe A
Reference Eur Neurol 37: 38-42, 1997 (PubMed ID: 9018031 )
GJB1 (Cx32): (Met34Val) (Leu90His) (Arg107Trp) (Arg142Trp) (Leu156Phe) (Glu186Lys)
Mutations

Title Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population.
Authors Latour P, Lévy N, Paret M, Chapon F, Chazot G, Clavelou P, Couratier P, Dumas R, Ollagnon E, Pouget J, Setiey A, Vallat JM, Boucherat M, Fontes M, Vandenberghe A
Reference Neurogenetics 1: 117-123, 1997 (PubMed ID: 10732813 )
GJB1 (Cx32): (Ser50Pro) (Leu56Phe) (Arg75Trp) (Glu102X) (Trp133Arg) (Gly159Ser) (Pro184Arg) (Ser281fs)
Mutations

Title SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations.
Authors Latour P, Gonnaud PM, Ollagnon E, Chan V, Perelman S, Stojkovic T, Stoll C, Vial C, Ziegler F, Vandenberghe A, Maire I
Reference J Peripher Nerv Syst 11: 148-155, 2006 (PubMed ID: 16787513 )
LITAF: (Ala111Gly) (Gly112Ser) (Pro135Thr) (Pro135Ser)
Mutations

Title Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.
Authors Laurà M, Milani M, Morbin M, Moggio M, Ripolone M, Jann S, Scaioli V, Taroni F, Pareyson D.
Reference J Neurol Neurosurg Psychiatry 78: 1263-1266, 2007 (PubMed ID: 17940173 )
MPZ (P0): (Pro70Ser)
Mutations

Title Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene.
Authors Lawson VH, Graham BV, Flanigan KM
Reference Neurology 65: 197-204, 2005 (PubMed ID: 16043786 )
MFN2: (Thr105Met) (Ile213Thr) (Val273Gly) (Gly298Arg) (Gly319Gly)
Mutations

Title Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.
Authors Leal A, Berghoff C, Berghoff M, Del Valle G, Contreras C, Montoya O, Hernandez E, Barrantes R, Schlotzer-Schrehardt U, Neundorfer B, Reis A, Rautenstrauss B, Heuss D
Reference Neurogenetics 4: 191-197, 2003 (PubMed ID: 12845552 )
MPZ (P0): (Tyr145Ser)
Mutations

Title
Authors Lee, YC
Reference personal data : , 2005
MPZ (P0): (Gly123Ser)
Mutations

Title Fequency of P0 gene mutations in HMSN type II families and identification of a British family with a novel mutation.
Authors Lee MJ, Houlden H, Sweeney M, Thomas PK, Manji H, Wood N, Reilly M
Reference J Peripher Nerv Syst 4: 295, 1999
MPZ (P0): (Ala76Val)
Mutations

Title Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.
Authors Lee MJ, Nelson I, Houlden H, Sweeney MG, Hilton-Jones D, Blake J, Wood NW, Reilly MM
Reference J Neurol Neurosurg Psychiatry 73: 304-306, 2002 (PubMed ID: 12185164 )
GJB1 (Cx32): (Trp24Cys) (Thr55Arg) (Glu109X) (Val125Asp) (Phe153Ser) (Thr191fs) (Thr191fs)
Mutations

Title Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1.
Authors Lee YC, Soong BW, Lin KP, Lee HY, Wu ZA, Kao KP
Reference J Neurol Sci 219: 95-100, 2004 (PubMed ID: 15050444 )
MPZ (P0): (Val58Asp) (Ser63Phe) (Thr65Ile) (Arg98Cys) (Ser233fs)
Mutations

Title Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation.
Authors Lee YC, Soong BW, Liu YT, Lin KP, Kao KP, Wu ZA
Reference J Neurol 252: 151-155, 2005 (PubMed ID: 15729519 )
MPZ (P0): (Arg98His)
Mutations

Title Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis
Authors Lee ST, Lee J, Lee M, Kim JW, Ki CS
Reference Muscle Nerve 40: 855-859, 2009 (PubMed ID: 19618435 )
NTRK1 (TRKA): ([5'-splice site]+[Glu719Lys]) (-) (-)
Mutations

Title Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation.
Authors Lenssen PP, Gabreëls-Festen AA, Valentijn LJ, Jongen PJ, van Beersum SE, van Engelen BG, van Wensen PJ, Bolhuis PA, Gabreëls FJ, Mariman EC
Reference Brain 121: 1451-1458, 1998 (PubMed ID: 9712007 )
PMP22: (Gly94fs)
Mutations

Title A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease.
Authors Leung CL, Nagan N, Graham TH, Liem RK
Reference Am J Med Genet part A 140A: 1021-1025, 2006 (PubMed ID: 16619203 )
NEFL: (Thr21fs)
Mutations

Title Identification of the first non-Jewish mutation in familial dysautonomia.
Authors Leyne M, Mull J, Gill SP, Cuajungco MP, Oddoux C, Blumenfeld A, Maayan C, Gusella JF, Axelrod FB, Slaugenhaupt SA
Reference Am J Med Genet 118A: 305-308, 2003 (PubMed ID: 12687659 )
IKBKAP: ([5'-splice-site]+[Pro914Leu])
Mutations

Title Severe neuropathy with leaky connexin32 hemichannels.
Authors Liang GS, de Miguel M, Gomez-Hernandez JM, Glass JD, Scherer SS, Mintz M, Barrio LC, Fischbeck KH
Reference Ann Neurol 57: 749-754, 2005 (PubMed ID: 15852376 )
GJB1 (Cx32): (Phe235Cys)
Mutations

Title Deletion and nonsense mutations of the connexin 32 gene associated with Charcot-Marie-Tooth disease.
Authors Lin C, Numakura C, Ikegami T, Shizuka M, Shoji M, Nicholson G, Hayasaka K
Reference Tohoku J Exp Med 188: 239-244, 1999 (PubMed ID: 10587015 )
GJB1 (Cx32): (Trp132X) (Deletion of complete coding region)
Mutations

Title [A new mutation in the connexin 32 gene of a Chinese family with Charcot-Marie-Tooth disease associated with central conduction slowing].
Authors Luo W, Tang B, Zhao G, Xia K, Yang Y, Xiao J, Yan X, Xia J
Reference Zhonghua Yi Xue Yi Chuan Xue Za Zhi 19: 367-369, 2002 (PubMed ID: 12362307 )
GJB1 (Cx32): (Leu131Pro)
Mutations

Title DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
Authors Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI
Reference Cell 66: 219-232, 1991 (PubMed ID: 1677316 )
PMP22: (CMT1A duplication)
Mutations

Title X-linked Charcot-Marie-Tooth disease caused by a novel point mutation in the connexin-32 gene.
Authors Ma W, Farrukh Nizam M, Grewal RP
Reference Neurol Sci 23: 195-197, 2002 (PubMed ID: 12536289 )
GJB1 (Cx32): (Ala40Thr)
Mutations

Title Congenital hypomyelination due to myelin protein zero Q215X mutation.
Authors Mandich P, Mancardi GL, Varese A, Soriani S, Di Maria E, Bellone E, Bado M, Gross L, Windebank AJ, Ajmar F, Schenone A
Reference Ann Neurol 45: 676-678, 1999 (PubMed ID: 10319895 )
MPZ (P0): (Gln215X)
Mutations

Title Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.
Authors Mardy S, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y
Reference Am J Hum Genet 64: 1570-1579, 1999 (PubMed ID: 10330344 )
NTRK1 (TRKA): ([Gln9X;His604Tyr.Gly613Val]+[Gln9X;His604Tyr.Gly613Val]) ([Asn67fs]+[Asn67fs]) ([Arg85Ser; 3'-splice site]+[Arg85Ser; 3'-splice site]) ([Leu213Pro]+[Gln308fs]) ([5'-splice site]+[5'-splice site]) ([Arg649Trp]+[Arg649Trp]) ([Gly714Ser]+[Gly714Ser])
Mutations

Title Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.
Authors Mardy S, Miura Y, Endo F, Matsuda I, Indo Y
Reference Hum Mol Genet 10: 179-188, 2001 (PubMed ID: 11159935 )
NTRK1 (TRKA): ([Gln9X;His604Tyr.Gly613Val]+[Gln9X;His604Tyr.Gly613Val]) ([Arg85Ser; 3'-splice site]+[Arg85Ser; 3'-splice site]) ([5'-splice site]+[His604Tyr;Gly613Val;Glu615X;Val617Leu])
Mutations

Title Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72.
Authors Marques W Jr, Thomas PK, Sweeney MG, Carr L, Wood NW
Reference Ann Neurol 43: 680-683, 1998 (PubMed ID: 9585367 )
PMP22: (Ser72Leu) (Gly100Glu)
Mutations

Title Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication.
Authors Marques W Jr, Sweeney MG, Wood NW
Reference Braz J Med Biol Res 36: 1403-1407, 2003 (PubMed ID: 14502374 )
PMP22: (Thr118Met)
Mutations

Title Dejerine-Sottas' neuropathy caused by the missense mutation PMP22 Ser72Leu.
Authors Marques W Jr, Neto JM, Barreira AA
Reference Acta Neurol Scand 110: 196-199, 2004 (PubMed ID: 15285778 )
PMP22: (Ser72Leu)
Mutations

Title Phenotypic variation of a new P0 mutation in genetically identical twins
Authors Marques W Jr, Hanna MG, Marques SR, Sweeney MG, Thomas PK, Wood NW
Reference J Neurol 246: 596-599, 1999 (PubMed ID: 10463363 )
MPZ (P0): (Asp128Asn)
Mutations

Title Central Nervous system involvement in a new Connexin 32 mutation affecting identical twins.
Authors Marques Jr W, Sweeney MG, Wroe SJ, Wood NW
Reference Abstractbook Third International Symposium on Charcot-Marie-Tooth Disorders : P21, 1998
GJB1 (Cx32): (Ala39Val)
Mutations

Title A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A.
Authors Marrosu MG, Vaccargiu S, Marrosu G, Vannelli A, Cianchetti C, Muntoni F
Reference Neurology 48: 489-493, 1998 (PubMed ID: 9040744 )
PMP22: (Gly107Val)
Mutations

Title Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.
Authors Marrosu MG, Vaccargiu S, Marrosu G, Vannelli A, Cianchetti C, Muntoni F
Reference Neurology 50: 1397-1401, 1997 (PubMed ID: 9595994 )
MPZ (P0): (Ser44Phe)
Mutations

Title Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.
Authors Mastaglia FL, Nowak KJ, Stell R, Phillips BA, Edmondston JE, Dorosz SM, Wilton SD, Hallmayer J, Kakulas BA, Laing NG
Reference J Neurol Neurosurg Psychiatry 67: 174-179, 1999 (PubMed ID: 10406984 )
MPZ (P0): (Asp35Tyr)
Mutations

Title Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1).
Authors Matsuyama W, Nakagawa M, Moritoyo T, Takashima H, Umehara F, Hirata K, Suehara M, Osame M
Reference J Hum Genet 46: 307-313, 2001 (PubMed ID: 11393532 )
GJB1 (Cx32): (Arg22Gln) (Val63Ile) (Glu186Lys)
Mutations

Title Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.
Authors Maystadt I, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L.
Reference Hum Mutat 23: 525-526, 2004 (PubMed ID: 15108294 )
IGHMBP2: (Gln196Arg + Arg603Cys) (Pro216Leu + Arg603Cys) (Leu251Pro + Leu577Pro) ([Cys496X]+[?]) (Asp565Asn + Arg790X)
Mutations

Title The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.
Authors Maystadt I, Rezsöhazy R, Barkats M, Duque S, Vannuffel P, Remacle S, Lambert B, Najimi M, Sokal E, Munnich A, Viollet L, Verellen-Dumoulin C
Reference Am J Hum Genet 81: 67-76, 2007 (PubMed ID: 17564964 )
PLEKHG5: ([Phe647Ser]+[Phe647Ser])
Mutations

Title The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.
Authors Meggouh F, Benomar A, Rouger H, Tardieu S, Birouk N, Tassin J, Barhoumi C, Yahyaoui M, Chkili T, Brice A, LeGuern E
Reference J Med Genet 34: 251-252, 1998 (PubMed ID: 9541114 )
GJB1 (Cx32): (Ala147fs)
Mutations

Title Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease.
Authors Meggouh F, de Visser M, Arts WF, De Coo RI, van Schaik IN, Baas F
Reference Ann Neurol 57: 589-591, 2005 (PubMed ID: 15786462 )
LITAF: (Gly112Ser + CMT1A duplication)
Mutations

Title Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene.
Authors Meggouh F, Bienfait HM, Weterman MA, de Visser M, Baas F
Reference Neurology 67: 1476-1478, 2006 (PubMed ID: 17060578 )
RAB7: (Lys157Asn)
Mutations

Title Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 in Russian Charcot-Marie-Tooth neuropathy patients.
Authors Mersiyanova IV, Ismailov SM, Polyakov AV, Dadali EL, Fedotov VP, Nelis E, Löfgren A, Timmerman V, Van Broeckhoven C, Evgrafov OV
Reference Hum Mutat 15: 340-347, 2000 (PubMed ID: 10737979 )
PMP22: (Val25_Ser26del) (Thr118Met) (Leu147Arg) MPZ (P0): (Arg98His) (Asp134Gly) (Asp134Glu) (Ile135Thr) (Lys138Asn) (Thr139Asn) (Ser228Ser) GJB1 (Cx32): ([Ile20Asn;Gly21Ser]) (Met34Lys) (Leu79Leu) (Gln80Arg) (Leu90Val) (Met93Val) (Arg107Trp) (Arg142Trp) (Arg164Gln) (Arg183His) (Glu186Lys) (Phe193Leu) (Glu208Lys)
Mutations

Title A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene
Authors Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV
Reference Am J Hum Genet 67: 37-46, 2000 (PubMed ID: 10841809 )
NEFL: (Gln332Pro)
Mutations

Title A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies.
Authors Meuleman J, Pou-Serradell A, Lofgren A, Ceuterick C, Martin JJ, Timmerman V, Van Broeckhoven C, De Jonghe P
Reference Neuromuscul Disord 11: 400-403, 2001 (PubMed ID: 11369192 )
PMP22: (3'-splice site)
Mutations

Title Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis.
Authors Mikesova E, Huhne K, Rautenstrauss B, Mazanec R, Barankova L, Vyhnalek M, Horacek O, Seeman P
Reference Neuromuscul Disord 15: 764-767, 2005 (PubMed ID: 16198564 )
EGR2: (Arg359Gln)
Mutations

Title Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
Authors Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Löscher WN
Reference Arch Neurol 64: 966-970, 2007 (PubMed ID: 17620486 )
NEFL: (Pro8Arg) (Leu94Pro)
Mutations

Title Two families of Charcot-Marie-Tooth disease with Adie's pupil, axonal neuropathy and the Thr124Met mutation in the peripheral myelin protein zero gene.
Authors Misu K, Yoshihara T, Yamamoto M, Hattori N, Nagamatu M, Mukai E, Takegami T, Sobue G
Reference Rinsho Shinkeigaku 40: 149-154, 2000 (PubMed ID: 10835936 )
MPZ (P0): (Thr124Met)
Mutations

Title An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene ('Thr124Met or Asp75Val).
Authors Misu K, Yoshihara T, Shikama Y, Awaki E, Yamamoto M, Hattori N, Hirayama M, Takegami T, Nakashima K, Sobue Gen
Reference J Neurol Neurosurg Psychiatry 69: 806-811, 2000 (PubMed ID: 11080237 )
MPZ (P0): (Asp75Val)
Mutations

Title A familial Charcot-Marie-Tooth disease type 1B (CMTD1B) manifesting a new mutation of myelin P0 gene;
Authors Mitsui Y, Matsui T, Nakamura Y, Takahashi M, Yoshikawa H, Hayasaka K
Reference Rinsho Shinkeigaku 34: 1162-1167, 1994 (PubMed ID: 7537189 )
MPZ (P0): (Tyr82Cys)
Mutations

Title Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families.
Authors Miura Y, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y
Reference Hum Genet 106: 116-124, 2000 (PubMed ID: 10982191 )
NTRK1 (TRKA): (Leu93Pro) ([Ser131fs]+[Ser131fs]) (Glu164X) (-) (Tyr359X) (Gly522Arg) ([Arg554fs]+[Arg554fs]) ([Gly577Arg]+[Gly577Arg]) (Leu585fs) (Arg602X) (Arg654Cys) (Asp674Tyr) (Asp776fs)
Mutations

Title Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis.
Authors Miura Y, Hiura M, Torigoe K, Numata O, Kuwahara A, Matsunaga M, Hasegawa S, Boku N, Ino H, Mardy S, Endo F, Matsuda I, Indo Y
Reference Hum Genet 107: 205-209, 2000 (PubMed ID: 11071380 )
NTRK1 (TRKA): ([Arg554fs]+[Arg554fs])
Mutations

Title Description of mutations in Cx32 in Italian families with diagnosois of CMT1 and CMT2.
Authors Mostacciuolo ML, Fabrizi GM, Bosello V, Cavallaro T, Schiavon F, Pinaroli C, Rizzuto N
Reference J Peripher Nerv Syst 4: 296-297, 1999
GJB1 (Cx32): (Val23Glu) (Arg75Gln) (His94Gln) (Tyr151Ser) (Arg164Trp) (Arg183His) (Pro184Leu)
Mutations

Title Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
Authors Mostacciuolo ML, Righetti E, Zortea M, Bosello V, Schiavon F, Vallo L, Merlini L, Siciliano G, Fabrizi GM, Rizzuto N, Milani M, Baratta S, Taroni F
Reference Hum Mutat 18: 32-41, 2001 (PubMed ID: 11438991 )
PMP22: (Ser72Leu) MPZ (P0): (Ser63Phe) GJB1 (Cx32): (Leu25Pro) (Ser128X)
Mutations

Title Identification of a new polymorphism (c134G>A) in the exon 2 of the myelin protein zero gene.
Authors Muglia M, Toscana A, Gabriele AL, Magariello A, Patitucci A, Conforti FL, Mazzei R, Rodolico C, Gambardella A, Quattrone A
Reference Hum Mutat (Online) 15: 299, 2000 (PubMed ID: 10679959 )
MPZ (P0): (Arg45Gln)
Mutations

Title A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies.
Authors Muglia M, Patitucci A, Rizzi R, Ungaro C, Conforti FL, Gabriele AL, Magariello A, Mazzei R, Motti L, Sabadini R, Sprovieri T, Marcello N, Quattrone A
Reference J Neurol Sci 263: 194-197, 2007 (PubMed ID: 17707409 )
PMP22: (Leu4fs)
Mutations

Title A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.
Authors Muglia M, Vazza G, Patitucci A, Milani M, Pareyson D, Taroni F, Quattrone A, Mostacciuolo ML.
Reference J Neurol Neurosurg Psychiatry 78: 1286-1287, 2007 (PubMed ID: 17940179 )
MFN2: (Ala383Val)
Mutations

Title A novel Cx32 mutation causes X-linked Charcot-Marie-Tooth disease with brainstem involvement and brain magnetic resonance spectroscopy abnormalities.
Authors Murru MR, Vannelli A, Marrosu G, Cocco E, Corongiu D, Tranquilli S, Cherchi MV, Mura M, Barberini L, Mallarini G, Marrosu MG
Reference Neurol Sci 27: 18-23, 2006 (PubMed ID: 16688595 )
GJB1 (Cx32): (Glu41Asp)
Mutations

Title Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;11.2) interrupting the PMP22 gene.
Authors Nadal M, Valiente A, Domenech A, Pritchard M, Estivill X, Ramos-Arroyo MA
Reference J Med Genet 37: 396-398, 2000 (PubMed ID: 10905899 )
PMP22: (reciprocal transclocation t(16;17)(q12;p11.2))
Mutations

Title A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths.
Authors Nakagawa M, Suehara M, Saito A, Takashima H, Umehara F, Saito M, Kanzato N, Matsuzaki T, Takenaga S, Sakoda S, Izumo S, Osame M
Reference Neurology 52: 1271-1275, 1999 (PubMed ID: 10214757 )
MPZ (P0): (Ile62Phe)
Mutations

Title A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease.
Authors Navon R, Seifried B, Gal-On NS, Sadeh M
Reference Hum Genet 97: 685-687, 1996 (PubMed ID: 8655153 )
PMP22: (Leu147Arg)
Mutations

Title
Authors Nelis E
Reference personal data : , 1998
PMP22: (Ile29Ile) GJB1 (Cx32): (Leu79Leu)
Mutations

Title
Authors Nelis
Reference personal data : , 2006
MFN2: (Arg468His) (Val705Ile)
Mutations

Title Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene.
Authors Nelis E, Timmerman V, De Jonghe P, Vandenberghe A, Pham-Dinh D, Dautigny A, Martin JJ, Van Broeckhoven C
Reference Hum Genet 94: 653-657, 1994 (PubMed ID: 7527371 )
MPZ (P0): (Ser78Leu) (Val92Val) (Asp134Asn) (Tyr154X) (Tyr181X) (Ser228Ser)
Mutations

Title Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations.
Authors Nelis E, Simokovic S, Timmerman V, Löfgren A, Backhovens H, De Jonghe P, Martin JJ, Van Broeckhoven C
Reference Hum Mutat 9: 47-52, 1997 (PubMed ID: 8990008 )
GJB1 (Cx32): (Leu25Phe) (Ser26Leu) (Pro87Ala) (Arg238His) (Ser281X)
Mutations

Title Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.
Authors Nelis E, Timmerman V, De Jonghe P, Muylle L, Martin JJ, Van Broeckhoven C
Reference J Med Genet 31: 811-815, 1994 (PubMed ID: 7530774 )
MPZ (P0): (Asp134Glu)
Mutations

Title Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.
Authors Nelis E, Van Broeckhoven C, coauthors
Reference Eur J Hum Genet 4: 25-33, 1996 (PubMed ID: 8800924 )
PMP22: (CMT1A duplication) (HNPP deletion) MPZ (P0): (Gly163Arg) (Gly167Arg) GJB1 (Cx32): (Arg15Trp) (Arg22Gln) (Ala40Val) (Leu56Phe) (His73fs) (Met93Val) (Thr130fs) (Val139Met) (Arg142Trp)
Mutations

Title Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1.
Authors Nelis E, Timmerman V, De Jonghe P, Van Broeckhoven C
Reference Hum Mol Genet 3: 515-516, 1994 (PubMed ID: 8012365 )
PMP22: (5'-splice site)
Mutations

Title PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?
Authors Nelis E, Holmberg B, Adolfsson R, Holmgren G, van Broeckhoven C
Reference Nat Genet 15: 13-14, 1994 (PubMed ID: 8988161 )
PMP22: (Thr118Met)
Mutations

Title Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.
Authors Nelis E, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van Gerwen V, Cuesta A, Pedrola L, Palau F, Gabreels-Festen AA, Verellen C, Tan E, Demirci M, Van Broeckhoven C, De Jonghe P, Topaloglu H, Timmerman V
Reference Neurology 59: 1865-1872, 2002 (PubMed ID: 12499475 )
GDAP1: ([Ser194X]+[Ser194X]) ([Gly262fs]+[Gly262fs]) ([Arg282Cys]+[Arg282Cys])
Mutations

Title Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.
Authors Nelis E, De Jonghe P, De Vriendt E, Patel PI, Martin JJ, Van Broeckhoven C
Reference J Med Genet 35: 590-593, 1998 (PubMed ID: 9678704 )
PMP22: (-)
Mutations

Title A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.
Authors Nelis E, Erdem S, Tan E, Lofgren A, Ceuterick C, De Jonghe P, Van Broeckhoven C, Timmerman V, Topaloglu H
Reference Neuromuscul Disord 12: 869-873, 2002 (PubMed ID: 12398840 )
MTMR2: ([Arg283Trp]+[Arg283Trp]) (Thr377Thr)
Mutations

Title Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A).
Authors Neusch C, Senderek J, Eggermann T, Elolff E, Bahr M, Schneider-Gold C
Reference Eur J Neurol 14: 575-577, 2007 (PubMed ID: 17437620 )
MFN2: (Arg94Gln)
Mutations

Title A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies.
Authors Nicholson GA, Valentijn LJ, Cherryson AK, Kennerson ML, Bragg TL, DeKroon RM, Ross DA, Pollard JD, McLeod JG, Bolhuis PA, Baas F
Reference Nat Genet 6: 263-266, 1994 (PubMed ID: 8012388 )
PMP22: (Leu7fs)
Mutations

Title Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.
Authors Nicholson GA, Yeung L, Corbett A
Reference Neurology 51: 1412-1416, 1998 (PubMed ID: 9818870 )
GJB1 (Cx32): (Leu9Trp) (Ile28Thr) (Ile30Thr) (Met34Thr) (Ile127Met) (Leu131Pro) (Pro158fs) (Val192Phe) (Leu239Ile)
Mutations

Title
Authors Nicholson and Kennerson
Reference personal data : , 2006
SPTLC1: (Arg151Leu)
Mutations

Title X-linked Charcot-Marie-Tooth disease: molecular analysis of interfamilial variability.
Authors Niewiadomski LA, Kelly TE
Reference Am J Med Genet 66: 175-178, 1996 (PubMed ID: 8958325 )
GJB1 (Cx32): (Arg220X)
Mutations

Title HNPP due to a novel missense mutation of the PMP22 gene.
Authors Nodera H, Nishimura M, Logigian EL, Herrmann DN, Kaji R.
Reference Neurology 60: 1863-1864, 2003 (PubMed ID: 12796555 )
PMP22: (Ala67Thr)
Mutations

Title Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1.
Authors Numakura c, Lin C, Oka N, Akiguchi I, Hayasaka K
Reference Ann Neurol 47: 11-103, 2000 (PubMed ID: 10632107 )
PMP22: ([Arg157Gly]+[HNPP deletion])
Mutations

Title Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations
Authors Numakura C, Lin C, Ikegami T, Guldberg P, Hayasaka K
Reference Hum Mutat 20: 392-398, 2002 (PubMed ID: 12402337 )
PMP22: (-) (-) (Ser72Leu) (Gln86X) (Ile104fs) (5'-splice site) (Leu156Leu) (-) MPZ (P0): (Ser63del) (Thr65Ile) (Tyr68Cys) (Asp75Val) (Tyr82Cys) (Val113Ile) (Thr124Met) (Gly163Arg) GJB1 (Cx32): (Leu10Leu) (Arg75Trp) (Arg75Gln) (Trp77X) (Val120del) (Val139Met) (Glu146Lys) (Ala147Asp) (Val210del) (Arg264Cys)
Mutations

Title Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1.
Authors Numakura C, Shirahata E, Yamashita S, Kanai M, Kijima K, Matsuki T, Hayasaka K
Reference J Neurol Sci 210: 61-64, 2003 (PubMed ID: 12736090 )
EGR2: (Asp383Tyr)
Mutations

Title Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease.
Authors Oh S, Ri Y, Bennett MV, Trexler EB, Verselis VK, Bargiello TA
Reference Neuron 19: 927-938, 1997 (PubMed ID: 9354338 )
GJB1 (Cx32): (Ser26Leu)
Mutations

Title A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation.
Authors Ohnishi A, Yoshimura T, Kanehisa Y, Fukushima Y
Reference Rinsho Shinkeigaku 35: 788-792, 1995 (PubMed ID: 8777804 )
PMP22: (Gly93Arg)
Mutations

Title A family of X-linked motor and sensory neuropathy with a new type of connexin32 mutation.
Authors Ohnishi A, Yoshimura T, Takazawa A, Hashimoto T, Yamamoto T, Fukushima Y
Reference Rinsho Shinkeigaku 35: 843-849, 1995 (PubMed ID: 8665724 )
GJB1 (Cx32): (Ser26Leu)
Mutations

Title Dejerine-Sottas disease with a novel de novo dominant mutation, Ser49Arg, of the peripheral myelin protein 22.
Authors Ohnishi A, Yamamoto T, Izawa K, Yamamori S, Takahashi, Mega H, Jinnai K
Reference Acta Neuropathol 99: 327-330, 2000 (PubMed ID: 10663978 )
PMP22: (Ser149Arg)
Mutations

Title A case of Charcot-Marie-Tooth disease 1B with Val146Phe mutation of myelin protein zero showing a severe clinical phenotype.
Authors Ohnishi A, Aoki A, Yamamoto T, Tsuji S
Reference Rinsho Shinkeigaku 40: 268-270, 2000 (PubMed ID: 10885340 )
MPZ (P0): (Val146Phe)
Mutations

Title The evaluation of autonomic nervous function in a patient with hereditary sensory and autonomic neuropathy type IV with novel mutations of the TRKA gene.
Authors Ohto T, Iwasaki N, Fujiwara J, Ohkoshi N, Kimura S, Kawade K, Tanaka R, Matsui A
Reference Neuropediatrics 35: 274-278, 2005 (PubMed ID: 15534759 )
NTRK1 (TRKA): ([Gly519Arg]+[Pro768Leu])
Mutations

Title X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32.
Authors Orth U, Fairweather N, Exler MC, Schwinger E, Gal A
Reference Hum Mol Genet 3: 1699-1700, 1994 (PubMed ID: 7833935 )
GJB1 (Cx32): (Val38Met)
Mutations

Title Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease.
Authors Otagiri T, Sugai K, Kijima K, Arai H, Sawaishi Y, Shimohata M, Hayasaka K
Reference J Hum Genet. 2006;51(7):625-8. 51: 625-628, 2006 (PubMed ID: 16770524 )
PRX: ([Leu132fs]+[Arg1070X])
Mutations

Title Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.
Authors Oterino A, Monton FI, Cabrera VM, Pinto F, Gonzalez A, Lavilla NR
Reference J Med Genet 33: 413-415, 1996 (PubMed ID: 8733054 )
GJB1 (Cx32): (Arg164Trp)
Mutations

Title Central nervous system involvement in four patients with Charcot-Marie-Tooth disease with connexin 32 extracellular mutations.
Authors Panas M, Karadimas C, Avramopoulos D, Vassilopoulos D
Reference J Neurol Neurosurg Psychiatry 65: 947-948, 1998 (PubMed ID: 9854984 )
GJB1 (Cx32): (Arg15Trp) (Thr55Ile) (Val120Glu) (Arg164Gln)
Mutations

Title Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies.
Authors Pareyson D, Taroni F
Reference Curr Opin Neurology 9: 348-354, 1996 (PubMed ID: 8894410 )
PMP22: (Trp124X)
Mutations

Title Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.
Authors Pareyson D, Taroni F, Botti S, Morbin M, Baratta S, Lauria G, Ciano C, Sghirlanzoni A
Reference Neurology 54: 1696-1698, 2000 (PubMed ID: 10762521 )
EGR2: (Arg381His)
Mutations

Title Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1.
Authors Park HK, Kim BJ, Sung DH, Ki CS, Kim JW.
Reference Clin Genet 70: 253-256, 2006 (PubMed ID: 16922730 )
PMP22: (3'-splice site) GJB1 (Cx32): (Asp46Gly) (Val95Met) (Tyr151His) (Phe180Leu)
Mutations

Title Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.
Authors Parman Y, Planté-Bordeneuve V, Guiochon-Mantel A, Eraksoy M, Said,G
Reference Ann Neurol 45: 518-522, 1999 (PubMed ID: 10211478 )
PMP22: ([Arg157Trp]+[Arg157Trp])
Mutations

Title Clinicopathological and genetic study of early-onset demyelinating neuropathy.
Authors Parman Y, Battaloglu E, Baris I, Bilir B, Poyraz M, Bissar-Tadmouri N, Williams A, Ammar N, Nelis E, Timmerman V, De Jonghe P, Necefov A, Deymeer F, Serdaroglu P, Brophy PJ, Said G
Reference Brain 127: 2540-2550, 2004 (PubMed ID: 15469949 )
MTMR2: (Thr228fs) ([Ile281fs]+[?]) NDRG1: ([Arg148X]+[Arg148X]) PRX: ([Arg1070X]+[Arg1070X]) GDAP1: ([Asp149Tyr]+[Asp149Tyr])
Mutations

Title Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.
Authors Paulson HL, Garbern JY, Hoban TF, Krajewski KM, Lewis RA, Fischbeck KH, Grossman RI, Lenkinski R, Kamholz JA, Shy ME
Reference Ann Neurol 52: 429-434, 2002 (PubMed ID: 12325071 )
GJB1 (Cx32): (Arg142Trp) (Cys168Tyr)
Mutations

Title Co-segregation of LMNA and PMP22 gene mutations in the same family.
Authors Pegoraro E, Gavassini BF, Benedetti S, Menditto I, Zara G, Padoan R, Mostacciuolo ML, Ferrari M, Angelini C.
Reference Neuromuscul Disord 15: 858-862, 2005 (PubMed ID: 16288874 )
PMP22: ([PMP22:Trp124X]+[LMNA:Leu512Pro])
Mutations

Title Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental "neural crest syndrome" related to a SOX10 mutation.
Authors Pingault V, Guiochon-Mantel A, Bondurand N, Faure C, Lacroix C, Lyonnet S, Goossens M, Landrieu P
Reference Ann Neurol 48: 671-676, 2000 (PubMed ID: 11026454 )
SOX10: (Glu265fs)
Mutations

Title Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1.
Authors Pitt M, Houlden H, Jacobs J, Mok Q, Harding B, Reilly M, Surtees R
Reference Brain 126: 2682-2692, 2003 (PubMed ID: 14506069 )
IGHMBP2: ([Arg43X]+[Cys496X]) ([Thr221fs] + [?]) ([Arg320X]+[Cys496X]) ([Arg320X]+[Leu361Pro]) (Lys328fs) ([Leu361Pro]+[Cys496X]) ([Leu488fs]+[Leu488fs])
Mutations

Title The range of chronic demyelinating neuropathy of infancy: a clinico-pathological and genetic study of 15 unrelated cases.
Authors Planté-Bordeneuve V, Parman Y, Guiochon-Mantel A, Alj Y, Deymeer F, Serdaroglu P, Eraksoy M, Said G
Reference J Neurol 248: 795-803, 2001 (PubMed ID: 11596785 )
PMP22: (Ser72Leu) MPZ (P0): ([Val42del]+[Ala221Thr])
Mutations

Title The Roussy-Levy family: from the original description to the gene
Authors Planté-Bordeneuve V, Guiochon-Mantel A, Lacroix C, Lapresle J, Said G
Reference Ann Neurol 46: 770-773, 1999 (PubMed ID: 10553995 )
MPZ (P0): (Asn131Lys)
Mutations

Title Mutant dynactin in motor neuron disease.
Authors Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E, Floeter MK, Bidus K, Drayna D, Oh SJ, Brown RH, Ludlow CL, Fischbeck KH
Reference Nat Genet 33: 455-456, 2003 (PubMed ID: 12627231 )
DCTN1: (Gly59Ser)
Mutations

Title Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a).
Authors Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, De Visser M, Bolhuis PA, Van Broeckhoven C, the HMSN Collaborative Research Group
Reference Neuromuscul Disord 1: 93-97, 1991 (PubMed ID: 1822787 )
PMP22: (CMT1A duplication)
Mutations

Title Identification of a de novo insertional mutation in P0 in a patient with a Dejerine-Sottas syndrome (DSS) phenotype.
Authors Rautenstrauss B, Nelis E, Grehl H, Pfeiffer RA, Van Broeckhoven C
Reference Hum Mol Genet 3: 1701-1702, 1994 (PubMed ID: 7530550 )
MPZ (P0): (Ala221fs)
Mutations

Title LATE ONSET HEREDITARY SENSORY NEUROPATHY TYPE 1 (HSN1) CAUSED BY A NOVEL P.C133R MISSENSE MUTATION IN SPTLC1
Authors Rautenstrauss B, Neitzel B, Muench C, Haas J, Holinski-Feder E, Abicht A.
Reference Journal of Peripheral Nervous System 14: 124-125, 2009
SPTLC1: (Cys133Arg)
Mutations

Title Preimplantation genetic diagnosis for familial dysautonomia.
Authors Rechitsky S, Verlinsky O, Kuliev A, Ozen RS, Masciangelo C, Lifchez A, Verlinsky Y
Reference Reprod Biomed Online 6: 488-493, 2003 (PubMed ID: 12831599 )
IKBKAP: ([5'-splice site]+[5'-splice site])
Mutations

Title X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene.
Authors Ressot C, Latour P, Blanquet-Grossard F, Sturtz F, Duthel S, Battin J, Corbillon E, Ollagnon E, Serville F, Vandenberghe A, Dautigny A, Pham-Dinh D
Reference Hum Genet 98: 172-175, 1996 (PubMed ID: 8698335 )
GJB1 (Cx32): (Arg22Gly) (Arg22X) (Arg22Pro) (Trp133X) (Arg215Trp)
Mutations

Title A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family.
Authors Riviere JB, Verlaan DJ, Shekarabi M, Lafreniere RG, Benard M, Der Kaloustian VM, Shbaklo Z, Rouleau GA
Reference Ann Neurol 56: 572-575, 2004 (PubMed ID: 15455397 )
WNK1/HSN2: ([Pro316fs]+[Pro316fs])
Mutations

Title Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
Authors Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR
Reference Nat Genet 5: 269-273, 1993 (PubMed ID: 8275092 )
PMP22: (Met69Lys) (Ser72Leu)
Mutations

Title Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.
Authors Roa BB, Garcia CA, Pentao L, Killian JM, Trask BJ, Suter U, Snipes GJ, Ortiz-Lopez R, Shooter EM, Patel PI, Lupski JR
Reference Nat Genet 5: 189-194, 1993 (PubMed ID: 8252046 )
PMP22: (Thr118Met)
Mutations

Title Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.
Authors Roa BB, Warner LE, Garcia CA, Russo D, Lovelace R, Chance PF, Lupski JR
Reference Hum Mutat 7: 36-45, 1996 (PubMed ID: 8664899 )
MPZ (P0): (Ile135Thr) (Gly137Ser) (Gly200Gly) (Ser228Ser)
Mutations

Title Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.
Authors Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, Lupski JR
Reference N Engl J Med 329: 96-101, 1993 (PubMed ID: 8510709 )
PMP22: (Ser79Cys)
Mutations

Title Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians.
Authors Roddier K, Thomas T, Marleau G, Gagnon AM, Dicaire MJ, St-Denis A, Gosselin I, Sarrazin AM, Larbrisseau A, Lambert M, Vanasse M, Gaudet D, Rouleau GA, Brais B
Reference Neurology 64: 1762-1767, 2005 (PubMed ID: 15911806 )
WNK1/HSN2: ([Arg290X]+[Arg290X]) ([Ser307fs]+[Ser307fs]) ([Gln315X]+[Gln315X])
Mutations

Title Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
Authors Rohkamm B, Reilly MM, Lochmüller H, Schlotter-Weigel B, Barisic N, Schöls L, Nicholson G, Pareyson D, Laurà M, Janecke AR, Miltenberger-Miltenyi G, John E, Fischer C, Grill F, Wakeling W, Davis M, Pieber TR, Auer-Grumbach M
Reference J Neurol Sci 263: 100-106, 2007 (PubMed ID: 17663003 )
GARS: (Ala57Val) BSCL2: (Asn88Ser) (Ser90Leu)
Mutations

Title Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation
Authors Rotthier A, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P, Timmerman V.
Reference Brain 132: 2699-711, 2009 (PubMed ID: 19651702 )
NTRK1 (TRKA): (-) ([Arg565Gln]+[Arg565Gln]) SPTLC1: (Ser331Phe) (Ala352Val)
Mutations

Title Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I
Authors Rotthier A, Auer-Grumbach M, Janssens K, Baets J, Penno A, Almeida-Souza L, Van Hoof K, Jacobs A, De Vriendt E, Schlotter-Weigel B, Löscher W, Vondrácek P, Seeman P, De Jonghe P, Van Dijck P, Jordanova A, Hornemann T, Timmerman V
Reference American Journal of Human Genetics 8: 513-522, 2010 (PubMed ID: 20920666 )
SPTLC2: (Val352Met) (Gly382Val) (Ile504Phe)
Mutations

Title Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.
Authors Rouger H, LeGuern E, Birouk N, Gouider R, Tardieu S, Plassart E, Gugenheim M, Vallat JM, Louboutin JP, Bouche P, Agid Y, Brice A
Reference Hum Mutat 10: 443-452, 1997 (PubMed ID: 9401007 )
GJB1 (Cx32): (Arg22X) (Met34Thr) (Val84Ile) (Val95Met) (Arg107Trp) (Trp133Arg) (Phe141Leu) (Pro158Ala) (Ile203Asn) (Asn205Ser) (Ile213_Ile214delinsLeu) (Arg220X) (Complex rearrangement)
Mutations

Title High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients.
Authors Rouger H, LeGuern E, Gouider R, Tardieu S, Birouk N, Gugenheim M, Bouche P, Agid Y, Brice A
Reference Am J Hum Genet 58: 638-641, 1996 (PubMed ID: 8644725 )
MPZ (P0): (Arg98Cys) (Arg98His) (Arg98Pro)
Mutations

Title Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B.
Authors Sabet A, Li J, Ghandour K, Pu Q, Wu X, Kamholz J, Shy ME, Cambi F
Reference Neurology 67: 1141-1146, 2006 (PubMed ID: 17030746 )
MPZ (P0): (5'-splice site)
Mutations

Title Abnormalities in the axonal cytoskeleton induced by a connexin32 mutation in nerve xenografts.
Authors Sahenk Z, Chen L
Reference J Neurosci Res 51: 174-184, 1998 (PubMed ID: 9469571 )
GJB1 (Cx32): (Glu102Gly)
Mutations

Title A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts.
Authors Sahenk Z, Chen L, Freimer M
Reference Neurology 5: 702-707, 1998 (PubMed ID: 9748013 )
PMP22: (Val30Met)
Mutations

Title Connexin 32 mutation in a Turkish family with X-linked Charcot-Marie-Tooth disease.
Authors Sahin N, Tan M, Kalay E, Calapoglu M, Karaguzel A
Reference Int J Neurosci 113: 777-785, 2003 (PubMed ID: 12775342 )
GJB1 (Cx32): (Val91Met)
Mutations

Title SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.
Authors Saifi GM, Szigeti K, Wiszniewski W, Shy ME, Krajewski K, Hausmanowa-Petrusewicz I, Kochanski A, Reeser S, Mancias P, Butler I, Lupski JR
Reference Hum Mutat 25: 372-383, 2005 (PubMed ID: 15776429 )
LITAF: (Thr49Met) () (Ile92Val) (Asn110Asn) (Gly112Ser) (Leu122Val) () (Lys159Lys) (3'UTR) (3'UTR) (3'UTR) (3'UTR)
Mutations

Title Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.
Authors Salin-Cantegrel A, Rivière JB, Dupré N, Charron FM, Shekarabi M, Karéméra L, Gaspar C, Horst J, Tekin M, Deda G, Krause A, Lippert MM, Willemsen MA, Jarrar R, Lapointe JY, Rouleau GA.
Reference 1: Neurology. 2007 Sep 25;69(13):1350-5. 69: 1350-1355, 2007 (PubMed ID: 17893295 )
SLC12A6 (KCC3): ([Gln999fs]+[Gln999fs])
Mutations

Title Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene.
Authors Sambuughin N, De Bantel A, McWilliams S, Sivakumar K
Reference Neurology 60: 506-508, 2003 (PubMed ID: 12578939 )
PMP22: (Ala115_Thr118del)
Mutations

Title Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this association.
Authors Sanahuja J, Franco E, Rojas-Garcia R, Gallardo E, Combarros O, Begue R, Granes P, Illa I
Reference Arch Neurol 62: 1911-1914, 2005 (PubMed ID: 16344349 )
PMP22: (HNPP deletion)
Mutations

Title A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease.
Authors Santoro L, Manganelli F, Di Maria E, Bordo D, Cassandrini D, Ajmar F, Mandich P, Bellone E.
Reference J Neurol Neurosurg Psychiatry 75: 262-265, 2004 (PubMed ID: 14742601 )
MPZ (P0): (Asp109Glu)
Mutations

Title Transient cerebral white matter lesions in a patient with connexin 32 missense mutation.
Authors Schelhaas HJ, Van Engelen BG, Gabreels-Festen AA, Hageman G, Vliegen JH, Van Der Knaap MS, Zwarts MJ
Reference Neurology 59: 2007-2008, 2002 (PubMed ID: 12499506 )
GJB1 (Cx32): (Arg164Trp)
Mutations

Title Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.
Authors Schiavon F, Fracasso C, Mostacciuolo ML
Reference Hum Mutat 8: 83-83, 1996 (PubMed ID: 8807343 )
GJB1 (Cx32): (Tyr7Cys)
Mutations

Title Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.
Authors Schiavon F, Rampazzo A, Merlini L, Angelini C, Mostacciuolo ML
Reference Hum Mutat Suppl1: S217-219, 1998 (PubMed ID: 9452091 )
MPZ (P0): (Thr124Met) (Phe125_Thr126del)
Mutations

Title
Authors Seeman P
Reference personal data : , 2004
MPZ (P0): (Arg98Cys) (Thr124Met) (Gly213Arg) GJB1 (Cx32): (His100Tyr) (Pro158Arg) (Arg164Gln) (Arg183Cys) (Glu186Lys) (Val206fs) (Glu208Lys) (Arg215Trp)
Mutations

Title Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing
Authors Seeman P, Mazanec R, Ctvrteckova M, Smilkova D
Reference Int J Mol Med 8: 461-468, 2001 (PubMed ID: 11562788 )
GJB1 (Cx32): (Tyr65His)
Mutations

Title Charcot-Marie-Tooth 1A: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype
Authors Seeman P, Mazanec R, Marikova T, Rautenstrauss B
Reference Ann N Y Acad Sci 883: 485-489, 1999 (PubMed ID: 10586280 )
PMP22: (Thr118Met)
Mutations

Title Novel mutations in the GJB1 - connexin 32 (Cx32) gene in Czech CMTX patients.
Authors Seeman P, Mazanec R, Vondrácek P, Soukupová M, Kofer J, Milucká J, Seemanva
Reference Eur J Hum Genet 12 (suppl.1): 248, 2004
GJB1 (Cx32): (Leu9Phe) (Leu212Phe)
Mutations

Title Novel mutations in myelin protein zero gene in Czech Charcot-Marie-Tooth disease patients.
Authors Seeman P, Sisková D, Benes III V, Svetnicová K, Sixtová K, Jahnová H, Mazanec R
Reference Eur J Pediatr Neurol 7: 291, 2003
MPZ (P0): (Thr65Asn) (5'-splice site)
Mutations

Title Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation.
Authors Seeman P, Mazanec R, Huehne K, Suslikova P, Keller O, Rautenstrauss B
Reference Neurology 63: 733-735, 2004
MPZ (P0): (Glu97Val)
Mutations

Title X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).
Authors Senderek J, Bergmann C, Quasthoff S, Ramaekers VT, Schroder JM
Reference Acta Neuropathol (Berl) 95: 443-449, 1998 (PubMed ID: 9600589 )
GJB1 (Cx32): (Arg15Trp) (Arg22Gln)
Mutations

Title X-linked dominant Charcot-Marie-Tooth disease: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations.
Authors Senderek J, Hermanns B, Bergmann C, Boroojerdi B, Bajbouj M, Hungs M, Ramaekers VT, Quasthoff S, Karch D, Schroder JM
Reference J Neurol Sci 167: 90-101, 1999 (PubMed ID: 10521546 )
GJB1 (Cx32): (Ala39Val) (Val206fs)
Mutations

Title Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible „hotspot“ on Thr124Met.
Authors Senderek J, Hermanns B, Lehmann U, Bergmann C, Marx G, Kabus C, Timmerman V, Stoltenburg-Didinger G, Schröder JM
Reference Brain Pathol 10: 235-248, 2000 (PubMed ID: 10764043 )
MPZ (P0): (Asp61Gly) (Tyr119Cys) (Thr124Met)
Mutations

Title Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain
Authors Senderek J, Ramaekers VT, Zerres K, Rudnik-Schoneborn S, Schroder JM, Bergmann C
Reference J Neurol Sci 192: 49-51, 2001 (PubMed ID: 11701152 )
MPZ (P0): (Gly206X)
Mutations

Title Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.
Authors Senderek J, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, Zuchner S, De Jonghe P, Rudnik-Schoneborn S, Zerres K, Schroder JM
Reference Brain 126: 642-649, 2003 (PubMed ID: 12566285 )
GDAP1: ([Tyr117fs]+[Tyr117fs]) (Ser169Ser) ([5'-splice site]+[5'-splice site]) ([Arg282Cys]+[Arg282Cys])
Mutations

Title Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.
Authors Senderek J, Bergmann C, Weber S, Ketelsen UP, Schorle H, Rudnik-Schoneborn S, Buttner R, Buchheim E, Zerres K
Reference Hum Mol Genet 12: 349-356, 2003 (PubMed ID: 12554688 )
SBF2 (MTMR13): ([Leu351_Glu432del]+[Leu351_Glu432del])
Mutations

Title Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth Type 4C neuropathy.
Authors Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, et al.
Reference Am J Hum Genet 73: 1106-1119, 2003 (PubMed ID: 14574644 )
SH3TC2 (KIAA1985): ([Arg9fs]+[Arg9fs]) ([5'-splice site]+[5'-splice site]) ([Arg529Gln]+[Arg529Gln]) ([Arg583fs]+[Arg583fs]) ([Glu657Lys]+[Glu657Lys]) ([Arg658Cys]+[Arg954X]) ([Ser831fs]+[Ser831fs]) ([Tyr943X]+[Arg954X]) ([Arg954X]+[Gln1201X]) ([Pro1114fs]+[Pro1114fs])
Mutations

Title Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.
Authors Shabo G, Scheffer H, Cruysberg JR, Lammens M, Pasman JW, Spruit M, Willemsen MA
Reference Pediatr Neurol 33: 277-279, 2005 (PubMed ID: 16194727 )
CTDP1: (Leu287fs)
Mutations

Title Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies.
Authors Shatzky S, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R
Reference Am J Med Genet 92: 353-360, 2000 (PubMed ID: 10861667 )
NTRK1 (TRKA): ([Gly613Val]+[Gly613Val]) ([Pro621fs]+[Pro621fs]) ([Pro621fs]+[Pro621fs]) (Ala629Ala) ([Gly684Gly]+[Gly684Gly]) ([Pro695Leu]+[Pro695Leu])
Mutations

Title Mutations in the nervous system specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II
Authors Shekarabi M, Girard N, Rivière JB, Dion P, Houle M, Toulouse A, Lafrenière RG, Vercauteren F, Hince P, Laganiere J, Rochefort D, Faivre L, Samuels M, Rouleau GA
Reference Journal of Clinical Investigation 2008: 2496-505, 118 (PubMed ID: 18521183 )
WNK1/HSN2: ([Arg214fs]+[Asp531fs*])
Mutations

Title A novel mutation of the myelin P(o) gene segregating Charcot-Marie-Toothdisease type 1B manifesting as trigeminal nerve thickening.
Authors Shizuka M, Ikeda Y, Watanabe M, Okamoto K, Shoji M, Ikegami T, Hayasaka K
Reference J Neurol Neurosurg Psychiatry 67: 250-251, 1999 (PubMed ID: 10475757 )
MPZ (P0): (His81Arg)
Mutations

Title
Authors Shy M
Reference personal data : , 1998
GJB1 (Cx32): (Cys168X)
Mutations

Title Phenotypic clustering in MPZ mutations.
Authors Shy ME, Jani A, Krajewski K, Grandis M, Lewis RA, Li J, Shy RR, Balsamo J, Lilien J, Garbern JY, Kamholz J
Reference Brain 127: 371-384, 2004 (PubMed ID: 14711881 )
MPZ (P0): (His39Pro) (Ser44Phe) (Cys50_Val58del) (Arg98His) (Lys130Arg) (Ser140Thr)
Mutations

Title T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.
Authors Shy ME, Scavina MT, Clark A, Krajewski KM, Li J, Kamholz J, Kolodny E, Szigeti K, Fischer RA, Saifi GM, Scherer SS, Lupski JR
Reference Ann Neurol 59: 358-364, 2006 (PubMed ID: 16437560 )
PMP22: ([Thr118Met]+[Thr118Met])
Mutations

Title Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
Authors Silander K, Meretoja P, Juvonen V, Ignatius J, Pihko H, Saarinen A, Wallden T, Herrgard E, Aula P, Savontaus ML
Reference Hum Mutat 12: 59-69, 1998 (PubMed ID: 9633821 )
PMP22: (Phe84del) MPZ (P0): (Ser78Leu) (Tyr82Cys) GJB1 (Cx32): ([Arg22Gln;Val63Ile]) (Pro58Arg) (Pro172Leu) (Asn175Asp) (Leu204Phe)
Mutations

Title A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Dejerine-Sottas syndrome patients.
Authors Silander K, Meretoja P, Nelis E, Timmerman V, Van Broeckhoven C, Aula P, Savontaus ML
Reference Hum Mutat 8: 304-310, 1996 (PubMed ID: 8956034 )
MPZ (P0): (Gln86_Ile89delinsHisLeuPhe)
Mutations

Title Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance.
Authors Silander K, Meretoja P, Pihko H, Juvonen V, Issakainen J, Aula P, Savontaus ML
Reference Hum Genet 100: 391-397, 1997 (PubMed ID: 9272161 )
GJB1 (Cx32): (Arg22Gln) (Arg75Trp) (Arg75Gln) (Arg107Trp) (Val139Met) (Met194Val)
Mutations

Title A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe X-linked Charcot-Marie-Tooth disease.
Authors Sillén A, Anneren G, Dahl N
Reference Hum Mutat Suppl1: S8-9, 1998 (PubMed ID: 9452025 )
GJB1 (Cx32): (Cys201Arg)
Mutations

Title Rapid mutation analysis of Charcot-Marie-Tooth type 1.
Authors Sillibourne J, Hackwell SM, Stevens CA, Harvey JF
Reference J Med Genet Suppl1: S87, 1998
GJB1 (Cx32): (Ser42fs) (Arg142Gln)
Mutations

Title Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22.
Authors Simonati A, Fabrizi GM, Pasquinelli A, Taioli F, Cavallaro T, Morbin M, Marcon G, Papini M, Rizzuto N
Reference Neuromuscul Disord 9: 257-261, 1999 (PubMed ID: 10399754 )
PMP22: (Ser72Leu)
Mutations

Title Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0.
Authors Simonati A, Fabrizi GM, Taioli F, Polo A, Cerini R, Rizzuto N
Reference J Neurol 249: 1298-1302, 2002 (PubMed ID: 12242557 )
MPZ (P0): (Gly167Arg)
Mutations

Title Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
Authors Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, Sambuughin N, Christodoulou K, Beggs JL, Zamba-Papanicolaou E, Ionasescu V, Dalakas MC, Green ED, Fischbeck KH, Goldfarb LG
Reference Brain 128: 2304-2314, 2005 (PubMed ID: 16014653 )
GARS: (His418Arg)
Mutations

Title Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.
Authors Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF
Reference Am J Hum Genet 68: 598-605, 2001 (PubMed ID: 11179008 )
IKBKAP: ([Arg696Pro]+[5'-splice site (skipping ex20)]) ([5'-splice site]+[5'-splice site])
Mutations

Title Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family.
Authors Smit LS, Roofthooft D, van Ruissen F, Baas F, van Doorn PA.
Reference Neuromuscul Disord : Epub ahead of print, 2007 (PubMed ID: 17825553 )
MPZ (P0): (Leu184fs)
Mutations

Title Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients.
Authors Song S, Zhang Y, Chen B, Zhang Y, Wang M, Wang Y, Yan M, Zou J, Huang Y, Zhong N
Reference Genet Med 8: 532-535, 2006 (PubMed ID: 16912585 )
MPZ (P0): (3' splice site) GJB1 (Cx32): (Glu208Lys) (Arg215Trp)
Mutations

Title Novel mutation of the myelin P0 gene in a CMT1B family.
Authors Sorour E, MacMillan J, Upadhyaya M
Reference Hum Mutat 9: 74-77, 1997 (PubMed ID: 8990016 )
MPZ (P0): (His81Arg)
Mutations

Title Mutation analysis in Charcot-Marie-Tooth disease type 1.
Authors Sorour E, Upadhyaya M
Reference Hum Mutat Suppl1: S22-247, 1998 (PubMed ID: 9452099 )
MPZ (P0): (Val58Phe) (Tyr68Cys) (Ile112Thr) (Pro132Leu) (Gly167Arg) GJB1 (Cx32): (Arg15Trp) (Cys60Phe) (Thr86Ala) (Val91fs) (Ala92fs) (His100Tyr) (Trp133Cys) (Asn205Ser)
Mutations

Title Rare myelin protein zero sequence variant in late onset CMT1B.
Authors Souayah N, Seltzer WK, Brannagan TH, Chin RL, Sander HW
Reference J Neurol Sci 263: 177-179, 2007 (PubMed ID: 17602703 )
MPZ (P0): (His39Pro)
Mutations

Title Genotype-phenotype correlation in a family with late onset CMT and an MPZ lys236del mutation.
Authors Sowden JE, Logigian EL, Malik K, Herrmann DN
Reference J Neurol Neurosurg Psychiatry 76: 442-444, 2005 (PubMed ID: 15716547 )
MPZ (P0): (Lys236del)
Mutations

Title Pathology and physiology of auditory neuropathy with a novel mutation in the MPZ gene (Tyr145->Ser).
Authors Starr A, Michalewski HJ, Zeng FG, Fujikawa-Brooks S, Linthicum F, Kim CS, Winnier D, Keats B
Reference Brain 126: 1604-1619, 2003 (PubMed ID: 12805115 )
MPZ (P0): (Tyr145Ser)
Mutations

Title Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.
Authors Stendel C, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J, Korinthenberg R, Ketelsen UP, Battaloglu E, Parman Y, Nicholson G, Ouvrier R, Seeger J, De Jonghe P, Weis J, Krüttgen A, Rudnik-Schöneborn S, Bergmann C, Suter U et al.
Reference Am J Hum Genet 81: 158-164, 2007 (PubMed ID: 17564972 )
FGD4: ([Arg224X]+[Arg224X]) ([Met298Arg]+[Met298Arg]/[Met298fs]+[Met298fs]) ([Glu543fs]+[Glu543fs]) ([Gly586X]+[Gly586X])
Mutations

Title Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q).
Authors Stojkovic T, Latour P, Vandenberghe A, Hurtevent JF, Vermersch P
Reference Neurology 52: 1010-1014, 1999 (PubMed ID: 10102421 )
GJB1 (Cx32): (Arg142Gln)
Mutations

Title Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene.
Authors Stojkovic T, Latour P, Viet G, de Seze J, Hurtevent JF, Vandenberghe A, Vermersch P.
Reference Neuromuscul Disord 14: 261-264, 2004 (PubMed ID: 15019704 )
GDAP1: ([Ile186fs]+[Ile186fs])
Mutations

Title Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.
Authors Street VA, Meekins G, Lipe HP, Seltzer WK, Carter GT, Kraft GH, Bird TD
Reference Neuromuscul Disord 12: 643-650, 2002 (PubMed ID: 12207932 )
MPZ (P0): (Ser140Thr) (Gly163Arg) (Lys236del) GJB1 (Cx32): (Ser49Pro)
Mutations

Title Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.
Authors Street VA, Bennett CL, Goldy JD, Shirk AJ, Kleopa KA, Tempel BL, Lipe HP, Scherer SS, Bird TD, Chance PF
Reference Neurology 60: 22-26, 2003 (PubMed ID: 12525712 )
LITAF: (Gly112Ser) (Thr115Asn) (Trp116Gly)
Mutations

Title Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene
Authors Suriu C, Khayat M, Weiler M, Kfir N, Cohen C, Zinger A, Aslanidis C, Schmitz G, Falik-Zaccai TC
Reference Clinical Genetics 75: 230-235, 2009 (PubMed ID: 19250380 )
NTRK1 (TRKA): ([Thr69fs]+[Thr69fs])
Mutations

Title Application of multiplex ligation-dependent probe analysis to define a small deletion encompassing PMP22 exons 4 and 5 in hereditary neuropathy with liability to pressure palsies.
Authors Sutton IJ, Mocroft AP, Lindley VH, Barber RM, Bryon RJ, Winer JB, MacDonald F
Reference Neuromuscul Disord 14: 804-809, 2004 (PubMed ID: 15564036 )
PMP22: (partial deletion of coding region)
Mutations

Title Marked phenotypic variation in a family with a new myelin protein zero mutation.
Authors Szabo A, Zuchner S, Siska E, Mechler F, Molnar MJ
Reference Neuromuscul Disord 15: 760-763, 2005 (PubMed ID: 16198109 )
MPZ (P0): (Leu48Pro)
Mutations

Title Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation.
Authors Szigeti K, Saifi GM, Armstrong D, Belmont JW, Miller G, Lupski JR
Reference Ann Neurol 54: 398-402, 2003 (PubMed ID: 12953275 )
MPZ (P0): (Leu184fs)
Mutations

Title Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.
Authors Szigeti K, Wiszniewski W, Saifi GM, Sherman DL, Sule N, Adesina AM, Mancias P, Papasozomenos SCh, Miller G, Keppen L, Daentl D, Brophy PJ, Lupski JR
Reference Neurogenetics 8: 257-262, 2007 (PubMed ID: 17717711 )
EGR2: (Glu412Lys)
Mutations

Title Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings.
Authors Tabaraud F, Lagrange E, Sindou P, Vandenberghe A, Levy N, Vallat JM
Reference Muscle Nerve 22: 1442-1447, 1999 (PubMed ID: 10487913 )
GJB1 (Cx32): (Glu102X)
Mutations

Title A new mutation of the Po gene in patients with Charcot-Marie-Tooth disease type 1B: screening of the Po gene by heteroduplex analysis.
Authors Tachi N, Kozuka N, Ohya K, Chiba S, Sasaki K, Uyemura K, Hayasaka K
Reference Neurosci Lett 204: 173-176, 1996 (PubMed ID: 8938258 )
MPZ (P0): (Lys130Arg)
Mutations

Title A small direct tandem duplication of the myelin protein zero gene in a patient with Dejerine-Sottas disease phenotype
Authors Tachi N, Kozuka N, Ohya K, Chiba S, Yamashita S
Reference J Neurol Sci 156: 167-171, 1998 (PubMed ID: 9588852 )
MPZ (P0): (Ala188fs)
Mutations

Title A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1.
Authors Tachi N, Kikuchi S, Kozuka N, Nogami A
Reference Pediatr Neurol 32: 288-290, 2005 (PubMed ID: 15797190 )
IGHMBP2: ([Thr879Lys]+[Thr879Lys])
Mutations

Title New HSN2 mutation in Japanese patient with hereditary sensory and autonomic neuropathy type 2.
Authors Takagi M, Ozawa T, Hara K, Naruse S, Ishihara T, Shimbo J, Igarashi S, Tanaka K, Onodera O, Nishizawa M
Reference Neurology 66: 1251-1252, 2006 (PubMed ID: 16636245 )
WNK1/HSN2: ([Asp379fs]+[Asp379fs])
Mutations

Title Germline mosaicism of MPZ gene in Dejerine-Sottas syndrome (HMSN III) associated with hereditary stomatocytosis.
Authors Takashima H, Nakagawa M, Kanzaki A, Yawata Y, Horikiri T, Matsuzaki T, Suehara M, Izumo S, Osame M
Reference Neuromuscul Disord 9: 232-238, 1999 (PubMed ID: 10399750 )
MPZ (P0): (Gly167Arg)
Mutations

Title Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
Authors Takashima H, Boerkoel CF, De Jonghe P, Ceuterick C, Martin JJ, Voit T, Schroder JM, Williams A, Brophy PJ, Timmerman V, Lupski JR
Reference Ann Neurol 51: 709-715, 2002 (PubMed ID: 12112076 )
PRX: ([Arg82fs]+[Arg82fs]) ([Cys715X]+[Cys715X])
Mutations

Title Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease.
Authors Takashima H, Nakagawa M, Umehara F, Hirata K, Suehara M, Mayumi H, Yoshishige K, Matsuyama W, Saito M, Jonosono M, Arimura K, Osame M
Reference Acta Neurol Scand 107: 31-37, 2003 (PubMed ID: 12542510 )
GJB1 (Cx32): (Arg22Gln) (Val63Ile) (Glu186Lys) (Deletion of complete coding region)
Mutations

Title Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.
Authors Takashima H, Boerkoel CF, Lupski JR
Reference Genet Med 3: 335-342, 2001 (PubMed ID: 11545686 )
PMP22: (Trp140Arg) GJB1 (Cx32): (Arg15fs) (Arg238His) EGR2: (Gly451Val)
Mutations

Title Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease.
Authors Tan CC, Ainsworth PJ, Hahn AF, MacLeod PM
Reference Hum Mutat 7: 167-171, 1996 (PubMed ID: 8829637 )
GJB1 (Cx32): (Met34Thr) (Arg75Gln) (Arg107Trp) (Tyr211X)
Mutations

Title Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L.
Authors Tang BS, Zhao GH, Luo W, Xia K, Cai F, Pan Q, Zhang RX, Zhang FF, Liu XM, Chen B, Zhang C, Shen L, Jiang H, Long ZG, Dai HP
Reference Hum Genet 116: 222-224, 2005 (PubMed ID: 15565283 )
HSPB8: (Lys141Asn)
Mutations

Title Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.
Authors Tang B, Liu X, Zhao G, Luo W, Xia K, Pan Q, Cai F, Hu Z, Zhang C, Chen B, Zhang F, Shen L, Zhang R, Jiang H
Reference Arch Neurol. 2005 Aug;62(8):1201-7 62: 1201-1207, 2005 (PubMed ID: 16087758 )
HSPB1: (Arg127Trp)
Mutations

Title A nonsense mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies (HNPP) not associated with the 17p11.2 deletion.
Authors Taroni F, Botti S, Sghirlanzoni A, Botteon G, DiDonato S, Pareyson D
Reference Am J Hum Genet 57: A229, 1995
PMP22: (Leu145fs)
Mutations

Title PMP22 and MPZ mutations in Italian families with hereditary neuropathy with liability to pressure palsies (HNPP) and Dejerine-Sottas disease (DSD)
Authors Taroni F, Botti S, Sghirlanzoni A, Pareyson D
Reference Mediz Genetik 9: 171, 1997
MPZ (P0): (Val169fs)
Mutations

Title Mutations in the Schwann cell transcription factor EGR2/Krox20 in patients with severe hereditary demyelinating neuropathies.
Authors Taroni F, Pareyson D, Botti S, Sghirlanzoni A, Nemni R, Riva D
Reference Neurology 52 [Suppl 2]: 258-259, 1999
EGR2: (Arg359Trp)
Mutations

Title PMP22 and MPZ mutations in Italian families with hereditary neuropathy with liability to pressure palsies (HNPP) and Dejerine-Sottas diseaqse (DSD)
Authors Taroni F, Botti S, Sghirlanzoni A, Pareyson, D
Reference Am J Hum Genet 59: A288, 1996
MPZ (P0): (Val102fs)
Mutations

Title The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem.
Authors Taylor RA, Simon EM, Marks HG, Scherer SS
Reference Neurology 61: 1475-148, 2003 (PubMed ID: 14663027 )
GJB1 (Cx32): (Arg75Trp)
Mutations

Title Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.
Authors Tazir M, Azzedine H, Assami S, Sindou P, Nouioua S, Zemmouri R, Hamadouche T, Chaouch M, Feingold J, Vallat JM, Leguern E, Grid D
Reference Brain 127: 154-163, 2004 (PubMed ID: 14607793 )
LMNA: ([Arg298Cys]+[Arg298Cys])
Mutations

Title Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13.
Authors Timmerman V, De Jonghe P, Spoelders P, Simokovic S, Löfgren A, Nelis E, Vance J, Martin JJ, Van Broeckhoven C
Reference Neurology 46: 1311-1318, 1996 (PubMed ID: 8628473 )
GJB1 (Cx32): (Ser49Tyr)
Mutations

Title A novel dominant mutation in the early growth response 2 (EGR2) gene associated with a Dejerine-Sottas syndrome (DSS) phenotype.
Authors Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Debrabandere S, Löfgren A, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C
Reference Neurology 52: 1827-1832, 1999 (PubMed ID: 10371530 )
EGR2: (Arg359Trp) (Arg362Arg)
Mutations

Title Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population
Authors Tüysüz B, Bayrakli F, DiLuna ML, Bilguvar K, Bayri Y, Yalcinkaya C, Bursali A, Ozdamar E, Korkmaz B, Mason CE, Ozturk AK, Lifton RP, State MW, Gunel M
Reference Neurogenetics 9: 119-125, 2008 (PubMed ID: 18322713 )
NTRK1 (TRKA): (-) ([Gly166X]+[Gly166X]) ([3'-splice site]+[3'-splice site]) ([Gln770X]+[Gln770X])
Mutations

Title Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome.
Authors Tyson J, Ellis D, Fairbrother U, King RH, Muntoni F, Jacobs J, Malcolm S, Harding AE, Thomas PK
Reference Brain 120: 47-63, 1997 (PubMed ID: 9055797 )
PMP22: (Ser72Trp) (Ser76Ile) (Leu80Pro) MPZ (P0): (Ile135Thr) (Leu166fs)
Mutations

Title New mutation of gap junction protein beta1 (GJB1) gene in X-linked hereditary motor and sensory neuropathy.
Authors Umehara F, Arimura Y, Osame M, Minato S, Nakahara K
Reference J Peripher Nerv Syst 11: 96-97, 2006 (PubMed ID: 16519791 )
GJB1 (Cx32): (Leu156fs)
Mutations

Title Dejerine-Sottas neuropathy is associated with a de novo PMP22 mutation.
Authors Valentijn LJ, Ouvrier RA, van den Bosch NH, Bolhuis PA, Baas F, Nicholson GA
Reference Hum Mutat 5: 76-80, 1995 (PubMed ID: 7728152 )
PMP22: (His12Gln)
Mutations

Title Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.
Authors Valentijn LJ, Baas F, Wolterman RA, Hoogendijk JE, van den Bosch NH, Zorn I, Gabreëls-Festen AW, de Visser M, Bolhuis PA
Reference Nat Genet 2: 288-291, 1992 (PubMed ID: 1303281 )
PMP22: (Leu16Pro)
Mutations

Title BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.
Authors BP, Scheffer H, van Eijk JJ, Versteeg MH, Kremer H, Zwarts MJ, Schelhaas HJ, van Engelen BG
Reference Neuromusc Disord 16: 122-125, 2006 (PubMed ID: 16427281 )
BSCL2: (Asn88Ser)
Mutations

Title Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene.
Authors van de Wetering RAC, Gabreels-Festen AA, Timmerman V, Padberg GM, Gabreels FJ, Mariman EC
Reference Neuromuscul Disord 12: 651-655, 2002 (PubMed ID: 12207933 )
PMP22: (partial deletion of coding region)
Mutations

Title Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies.
Authors Vandenberghe N, Upadhyaya M, Gatignol A, Boutrand L, Boucherat M, Chazot G, Vandenberghe A, Latour P
Reference J Med Genet 39: e81, 2002 (PubMed ID: 12471219 )
EGR2: (Arg381His)
Mutations

Title Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
Authors Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK et al.
Reference Nat Genet 35: 185-189, 2003 (PubMed ID: 14517542 )
CTDP1: (Leu287fs)
Mutations

Title A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset.
Authors Vazza G, Merlini L, Bertolin C, Zortea M, Mostacciuolo ML
Reference Neuromuscul Disord Epub ahead of print]: , 2006 (PubMed ID: 17052905 )
GJB1 (Cx32): (Thr191_Phe193dup)
Mutations

Title Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy.
Authors Verhoeven K, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, Kwon JM, FitzPatrick D, Schmedding E, De Vriendt E, Jacobs A, Van Gerwen V, Wagner K, Hartung HP, Timmerman V
Reference Am J Hum Genet 72: 722-727, 2003 (PubMed ID: 12545426 )
RAB7: (Leu129Phe) (Val162Met)
Mutations

Title Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10.
Authors Verhoeven K, De Jonghe P, Van de Putte T, Nelis E, Zwijsen A, Verpoorten N, De Vriendt E, Jacobs A, Van Gerwen V, Francis A, Ceuterick C, Huylebroeck D, Timmerman V
Reference Am J Hum Genet 73: 926-932, 2003 (PubMed ID: 14508709 )
ARHGEF10: (Thr332Ile)
Mutations

Title SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.
Authors Verhoeven K, Coen K, De Vriendt E, Jacobs A, Van Gerwen V, Smouts I, Pou-Serradell A, Martin JJ, Timmerman V, De Jonghe P
Reference Neurology 62: 1001-1002, 2004 (PubMed ID: 15037712 )
SPTLC1: (Gly387Ala)
Mutations

Title MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie- Tooth type 2.
Authors Verhoeven K, Claeys KG, Zuchner S, Schroder JM, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, Butler IJ, Kochanski A, Ryniewicz B, De Bleecker J, Van den Bergh P, Verellen C et al.
Reference Brain 129: 2093-2102, 2006 (PubMed ID: 16714318 )
MFN2: (Leu76Pro) (Leu92Pro) (Arg94Trp) (Arg94Gln) (Ala100Gly) (Pro123Leu) (His165Tyr) (His165Arg) (Thr206Ile) (Arg250Trp+Arg400X) (Arg250Gln) (His277Arg) (Arg280His) (Met376Ile) (Leu379_Met381del) (Gln386Pro) (Leu710Pro) (Trp740Ser) (Gln751X)
Mutations

Title Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.
Authors Verny C, Ravise N, Leutenegger AL, Pouplard F, Dubourg O, Tardieu S, Dubas F, Brice A, Genin E, LeGuern E
Reference Neurology 63: 1527-1529, 2004 (PubMed ID: 15505184 )
MTMR2: (Trp583X)
Mutations

Title Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV.
Authors Verpoorten N, Claeys KG, Deprez L, Jacobs A, Van Gerwen V, Lagae L, Arts WF, De Meirleir L, Keymolen K, Ceuterick-de Groote C, De Jonghe P, Timmerman V, Nelis E
Reference Neuromusc Disord 16: 19-25, 2006 (PubMed ID: 16373086 )
NTRK1 (TRKA): (5'-splice site (skipping exon 3 and skipping exons 2+3)) (Gly181fs) ([Gly613Val]+[Gly613Val]) (Gln626fs) (Ala629Ala) ([Arg761Trp]+[Arg761Trp])
Mutations

Title X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene.
Authors Vondracek P, Seeman P, Hermanova M, Fajkusova L
Reference Muscle Nerve 31: 252-255, 2005 (PubMed ID: 15468313 )
GJB1 (Cx32): (Ile127Ser)
Mutations

Title Point mutation associated with X-linked dominant Charcot-Marie-Tooth disease impairs the P2 promotor activity of human connexin-32 gene.
Authors Wang H, Wu T, Chang W, Li AH, Chen M, Wu C, Fang W
Reference Brain Res Mol Brain Res 78: 146-153, 2000 (PubMed ID: 10891594 )
GJB1 (Cx32): (-)
Mutations

Title Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
Authors Warner LE, Hilz MJ, Appel SH, Killian JM, Kolodry EH, Karpati G, Carpenter S, Watters GV, Wheeler C, Witt D, Bodell A, Nelis E, Van Broeckhoven C, Lupski JR
Reference Neuron 17: 451-460, 1996 (PubMed ID: 8816708 )
MPZ (P0): (Arg98Ser) (Arg98Cys) (Val102fs) (Leu174fs) (Gln215X)
Mutations

Title Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.
Authors Warner LE, Shohat M, Shorer Z, Lupski JR
Reference Hum Mutat 10: 21-24, 1997 (PubMed ID: 9222756 )
MPZ (P0): ([Ile114Thr;Asn116His;Asp128Asn])
Mutations

Title Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.
Authors Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR
Reference Nat Genet 18: 382-384, 1998 (PubMed ID: 9537424 )
EGR2: ([Ile268Asn]+[Ile268Asn]) ([Ser382Arg; Asp383Tyr]) (Arg409Trp)
Mutations

Title Corticosteroid- responsive asymmetric neuropathy with a myelin protein zero gene mutation.
Authors Watanabe M, Yamamoto N, Ohkoshi N, Nagata H, Kohno Y, Hayashi A, Tamaoka A, Shoji S
Reference Neurology 59: 767-769, 2002 (PubMed ID: 12221176 )
MPZ (P0): (Arg98His)
Mutations

Title Missense mutation (R15W) of the connexin32 gene in a family with X chromosomal Charcot-Marie-Tooth neuropathy with only female family members affected.
Authors Wicklein EM, Orth U, Gal A, Kunze K
Reference J Neurol Neurosurg Psychiatry 63: 379-381, 1997 (PubMed ID: 9328258 )
GJB1 (Cx32): (Arg15Trp)
Mutations

Title
Authors Williams and Morris
Reference personal data : , 2000
GJB1 (Cx32): (Trp3X)
Mutations

Title
Authors Williams
Reference personal data : , 2000
GJB1 (Cx32): (Leu83Arg) (Cys173Tyr) (Thr176Pro)
Mutations

Title Laboratory Service provision in the South West of England - two years' experience.
Authors Williams MM, Tyfield LA, Jardine P, Lunt PW, Stevens DL, Turnpenny PD
Reference Ann N Y Acad Sci 883: 500-503, 1999
GJB1 (Cx32): (Arg22Gln) (Ala39Val) (Val43Met) (Lys104Thr) (Val139Met) (Arg142Trp) (Arg142Gln) (Phe149Val) (Val177Glu) (Arg220X)
Mutations

Title Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
Authors Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K
Reference Nat Genet 36: 271-276, 2004 (PubMed ID: 14981520 )
BSCL2: (Asn88Ser) (Ser90Leu)
Mutations

Title Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.
Authors Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel PI, Lupski JR
Reference Am J Hum Genet 53: 853-863, 1993 (PubMed ID: 8105684 )
PMP22: (CMT1A duplication)
Mutations

Title Clinical and molecular features of X-linked Charcot-Marie-Tooth disease.
Authors Wolfe GI, Bryan WW, Barohn RJ
Reference J Child Neurol 11: A147, 1996
GJB1 (Cx32): (Arg220X)
Mutations

Title Mutation of gene in spinal muscular atrophy respiratory distress type I.
Authors Wong VC, Chung BH, Li S, Goh W, Lee SL
Reference Pediatr Neurol 34: 474-477, 2006 (PubMed ID: 16765827 )
IGHMBP2: ([V580I]+[A786fs])
Mutations

Title Clinical and electrophysiological studies of a family with probable X-linked dominant Charcot-Marie-Tooth neuropathy and ptosis.
Authors Wu T, Wang HL, Chu CC, Yu JM, Chen JY, Huang CC
Reference Chang Gung Med J 27: 489-500, 2004 (PubMed ID: 15508871 )
GJB1 (Cx32): (-)
Mutations

Title Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination
Authors Xu W, Shy M, Kamholz J, Elferink L, Xu G, Lilien J, Balsamo J
Reference J Cell Biol 155: 439-446, 2001 (PubMed ID: 11673479 )
MPZ (P0): (Arg227Ser)
Mutations

Title Glu528del in NEFL is a polymorphic variant rather than a disease-causing mutation for Charcot-Marie-Tooth disease in Japan.
Authors Yamamoto M, Yoshihara T, Hattori N, Sobue G
Reference Neurogenetics 5: 75-77, 2004 (PubMed ID: 14586770 )
NEFL: (Glu527del)
Mutations

Title Phe84 deletion of the PMP22 gene associated with hereditary motor and sensory neuropathy HMSNIII with multiple cranial neuropathy: clinical, neurophysiological and magnetic resonance imaging findings.
Authors Yener GG, Guiochon-Mantel A, Obuz F, Baklan B, Öztürk V, Kovanlikaya I, Cakmur R, Genç A
Reference J Neurol 248: 193-196, 2001 (PubMed ID: 11355152 )
PMP22: (Phe84del)
Mutations

Title Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.
Authors Yoshihara T, Yamamoto M, Doyu M, Misu KI, Hattori N, Hasegawa Y, Mokuno K, Mitsuma T, Sobue G
Reference Hum Mutat 16: 177-178, 2000 (PubMed ID: 10923043 )
MPZ (P0): (Val32Phe) (Tyr68Cys) (Lys130Arg) GJB1 (Cx32): (Phe69Leu) (Ser128X) (Arg142Gln) (Arg164Gln)
Mutations

Title A novel mutation in the early growth response 2 gene associated with late-onset Charcot-Marie-Tooth disease type 1.
Authors Yoshihara T, Kanda F, Yamamoto M, Ishihara H, Misu K, Hattori N, Chihara K, Sobue G
Reference J Neurol Sci 184: 149-153, 2001 (PubMed ID: 11239949 )
EGR2: (Arg381Cys)
Mutations

Title Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals.
Authors Yoshihara T, Yamamoto M, Hattori N, Misu K, Mori K, Koike H, Sobue G
Reference J Peripher Nerv Syst 7: 221-224, 2002 (PubMed ID: 12477167 )
NEFL: (-) (Pro22Thr) (Val76Ala) (Gln93Gln) (Asn98Ser) (Ala149Val) (Ala498Thr) (Glu527del)
Mutations

Title Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families.
Authors Yoshimura T, Ohnishi A, Yamamoto T, Fukushima Y, Kitani M, Kobayashi T
Reference Hum Mutat 8: 270-272, 1996 (PubMed ID: 8889588 )
GJB1 (Cx32): (Ser26Leu) (Cys53Ser)
Mutations

Title Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression.
Authors Yoshimura T, Satake M, Ohnishi A, Tsutsumi Y, Fujikura Y
Reference J Neurosci Res 51: 154-161, 1998 (PubMed ID: 9469569 )
GJB1 (Cx32): (Pro172Arg)
Mutations

Title A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis.
Authors Yotsumoto S, Setoyama M, Hozumi H, Mizoguchi S, Fukumaru S, Kobayashi K, Saheki T, Kanzaki T
Reference J Invest Dermatol 112: 810-814, 1999 (PubMed ID: 10233776 )
NTRK1 (TRKA): ([Met587Val]+[(Arg554fs)])
Mutations

Title A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies.
Authors Young P, Wiebusch H, Stogbauer F, Ringelstein B, Assmann G, Funke H
Reference Neurology 48: 450-452, 1997 (PubMed ID: 9040737 )
PMP22: (Gly94fs)
Mutations

Title Mutation analysis in Charcot-Marie-Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity
Authors Young P, Grote K, Kuhlenbäumer, Debus O, Kurlemann H, Halfter H, Funke H, Ringelstein EB, Stögbauer F
Reference J Neurol 248: 410-415, 2001 (PubMed ID: 11437164 )
MPZ (P0): (Ser51Phe) (Ser78Leu) (Arg98His) (Gln141X) GJB1 (Cx32): (Ser26Trp) (Cys64Phe) (Glu102fs) (Arg142Trp) (Arg164Trp) (Pro184Arg) (Arg215Trp)
Mutations

Title PMP22 Thr118Met is not a clinically relevant CMT1 marker.
Authors Young P, Stogbauer F, Eller B, de Jonghe P, Lofgren A, Timmerman V, Rautenstrauss B, Oexle K, Grehl H, Kuhlenbaumer G, Van Broeckhoven C, Ringelstein EB, Funke H.
Reference J Neurol 247: 696-700, 2000 (PubMed ID: 11081809 )
PMP22: (Thr118Met)
Mutations

Title A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies.
Authors Zéphir H, Stojkovic T, Latour P, Hurtevent JF, Blankaert F, Vermersch P
Reference Neuromuscul Disord 15: 493-497, 2005 (PubMed ID: 15955700 )
PMP22: (Leu145fs)
Mutations

Title Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations.
Authors Zhu D, Kennerson ML, Walizada G, Zuchner S, Vance JM, Nicholson GA
Reference Neurology 65: 496-497, 2005 (PubMed ID: 16087932 )
MFN2: (His165Asp)
Mutations

Title Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
Authors Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y, Evgrafov O, Jonghe PD,Takahashi Y, Tsuji S, Pericak-Vance MA, Quattrone A, Battologlu E, Polyakov AV, Timmerman V et al.
Reference Nat Genet 36: 449-451, 2004 (PubMed ID: 15064763 )
MFN2: (Val69Phe) (Leu76Pro) (Arg94Trp) (Arg94Gln) (Thr105Met) (Pro251Ala) (Arg274Gln) (Arg280His) (Arg418X) (Trp740Ser)
Mutations

Title The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.
Authors Züchner S, Vorgerd M, Sindern E, Schröder JM.
Reference Neuromuscul Disord 14: 147-157, 2004 (PubMed ID: 14733962 )
NEFL: (Glu396Lys)
Mutations

Title Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.
Authors Züchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, Vance JM
Reference Nat Genet 37: 289-294, 2005 (PubMed ID: 15731758 )
DNM2: (Asp551_Glu553del; Asp551fs) (Lys558del) (Lys558Glu)
Mutations

Title Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
Authors Züchner S, De Jonghe P, Jordanova A, Claeys KG, Guergueltcheva V, Cherninkova S, Hamilton SR, Van Stavern G, Krajewski KM, Stajich J, Tournev I, Verhoeven K, Langerhorst CT, de Visser M, Baas F, Bird T, Timmerman V, Shy M, Vance JM.
Reference Ann Neurol 59: 276-281, 2006 (PubMed ID: 16437557 )
MFN2: (Arg94Trp) (Thr206Ile) (Gln276Arg) (His361Tyr) (Arg364Trp) (Arg418X)
Mutations

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