IPN 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)
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Mutations
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Reference
| 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)
|
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Mutations
|
Reference
| 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)
|
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Mutations
|
Reference
| 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
|
