IPN Mutations
Reference
| 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
|
Reference
| 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
|
