Inherited Peripheral Neuropathies Mutation Database

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Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

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