Article
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.
Neurology - 24 Dec 2002
Nelis E, Erdem S, Van Den Bergh P Y K, Belpaire-Dethiou M-C, Ceuterick C, Van Gerwen V, Cuesta A, Pedrola L, Palau F, Gabreëls-Festen A A W M, Verellen C, Tan E, Demirci M, Van Broeckhoven C, De Jonghe P, Topaloglu H, Timmerman V
Abstract excerpt
BACKGROUND: Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) were recently shown to be responsible for autosomal recessive (AR) demyelinating Charcot-Marie-Tooth disease (CMT) type 4A (CMT4A) as well as AR axonal CMT with vocal cord paralysis. METHODS: The coding region of GDAP1 was screened for the presence of mutations in seven families with AR CMT in which the patients...
Topics
- Age of Onset
- Axons
- Charcot-Marie-Tooth Disease
- Child
- Child, Preschool
- Chromosomes, Human, Pair 8
- Demyelinating Diseases
- Electrophysiology
- Family
- Female