Clinical, electrophysiological and genetic studies of two families with mutations in the GDAP1 gene.
Neuropediatrics
; 39(3): 184-7, 2008 Jun.
Article
in En
| MEDLINE
| ID: mdl-18991200
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Charcot-Marie-Tooth Disease
/
Mutation, Missense
/
Nerve Tissue Proteins
Type of study:
Diagnostic_studies
Limits:
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
En
Journal:
Neuropediatrics
Year:
2008
Document type:
Article
Affiliation country:
Francia