IPN Mutations
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
)
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GJB1 (Cx32):
(Gly12Ser)
(Val139Met)
(Arg142Trp)
(Leu156Arg)
(Pro172Ser)
(Asn175fs)
(Glu186Lys)
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Mutations
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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
)
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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)
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Mutations
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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
)
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GJB1 (Cx32):
(Met34Val)
(Leu90His)
(Arg107Trp)
(Arg142Trp)
(Leu156Phe)
(Glu186Lys)
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Mutations
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Reference
| Title |
|
| Authors |
Harvey JF |
| Reference |
personal data : , 1998 |
|
GJB1 (Cx32):
(Arg15Trp)
(Glu186Lys)
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Mutations
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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
)
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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)
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Mutations
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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
)
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GJB1 (Cx32):
(Arg22Gln)
(Val63Ile)
(Glu186Lys)
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Mutations
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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
)
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GJB1 (Cx32):
(Arg22Gln)
(Val63Ile)
(Glu186Lys)
(Deletion of complete coding region)
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Mutations
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Reference
| Title |
|
| Authors |
Seeman P |
| Reference |
personal data : , 2004 |
|
MPZ (P0):
(Arg98Cys)
(Thr124Met)
(Gly213Arg)
GJB1 (Cx32):
(His100Tyr)
(Pro158Arg)
(Arg164Gln)
(Arg183Cys)
(Glu186Lys)
(Val206fs)
(Glu208Lys)
(Arg215Trp)
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Mutations
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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
)
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GJB1 (Cx32):
(Arg22Gln)
(Ala39fs)
(Leu56Phe)
(Val91Met)
(His94Asp)
(His94Gln)
(Thr130Ile)
(Arg142Gln)
(Arg164Trp)
(Arg164Gln)
(Glu186Lys)
(Gly199Arg)
(Arg215Trp)
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Mutations
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