Article
A novel GDAP1 mutation P78L responsible for CMT4A disease in three Moroccan families.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 Nov 2007
Bouhouche Ahmed, Birouk Nazha, Benomar Ali, Ouazzani Reda, Chkili Taïeb, Yahyaoui Mohamed
Abstract excerpt
BACKGROUND: The gene encoding the ganglioside-induced-differentiation-associated protein 1 (GDAP1) has been associated with both axonal and demyelinating neuropathy. Up to date, 25 mutations in the GDAP1 gene have been reported in patients from different origins. METHODS: Three Moroccan families with early onset ARCMT1 and autosomal recessive inheritance were genotyped to test linkage to 8q21.3 and their GDAP1...
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