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