IPN Mutations
Reference
| Title |
A novel dominant mutation in the early growth response 2 (EGR2) gene associated with a Dejerine-Sottas syndrome (DSS) phenotype. |
| Authors |
Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Debrabandere S, Löfgren A, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C |
| Reference |
Neurology 52: 1827-1832, 1999
(PubMed ID:
10371530
)
|
|
EGR2:
(Arg359Trp)
(Arg362Arg)
|
|
Mutations
|
Reference
| Title |
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. |
| Authors |
Choi BO, Lee MS, Shin SH, Hwang JH, Choi KG, Kim WK, Sunwoo IN, Kim NK, Chung KW |
| Reference |
Hum Mutat 24: 185-186, 2004
(PubMed ID:
15241803
)
|
|
PMP22:
(Ala106fs)
MPZ (P0):
(Asp118Asn)
(3' splice site)
(Lys236Glu)
GJB1 (Cx32):
(Leu10Leu)
(Arg164Gln)
(Cys168Arg)
(Ser198Ser)
EGR2:
(Arg359Trp)
(Arg362Arg)
NEFL:
(Gln93Gln)
(Leu333Pro)
(Glu396Lys)
|
|
Mutations
|
