Format

Send to:

Choose Destination
See comment in PubMed Commons below
Neuropediatrics. 2008 Jun;39(3):184-7. doi: 10.1055/s-0028-1085467. Epub 2008 Nov 7.

Clinical, electrophysiological and genetic studies of two families with mutations in the GDAP1 gene.

Author information

  • 1Department of médecine physique et de réadaptation pédiatrique, centre hospitalier universitaire, Saint-Etienne, France.

Abstract

Mutations in the gene for the ganglioside-induced-differentiation-associated-protein 1 on 8q21 were recently reported to cause autosomal recessive Charcot-Marie-Tooth sensorimotor neuropathy. We report a detailed clinical, electrophysiological and genetic study of two young patients harbouring missense GDAP1 mutations. The two patients presented severe neuropathy with an early onset. One of the mutations (Tyr279Cys) has never been hitherto reported. Electrophysiological investigations suggested a predominant axonal damage in both patients. Despite the similitude of the type of mutations and electromyographic features, the clinical course was different for the patients, highlighting the complexity of genotype/phenotype relationships among GDAP1 mutations.

PMID:
18991200
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Georg Thieme Verlag Stuttgart, New York
    Loading ...
    Write to the Help Desk