Open AccessPhenotypical Features of a Moroccan Family With Autosomal Recessive Charcot-Marie-Tooth Disease Associated With the S194X Mutation in the GDAP1 Gene
Author(s) -
Nazha Birouk,
Hamid Azzedine,
O. Dubourg,
MariePaule Muriel,
Ali Benomar,
Tarik Hamadouche,
Thierry Maisonobe,
Réda Ouazzani,
Alexis Brice,
Mohamed Yahyaoui,
T Chkili,
E. Le Guern
Publication year - 2003
Publication title -
archives of neurology
Language(s) - English
Resource type - Journals
eISSN - 1538-3687
pISSN - 0003-9942
DOI - 10.1001/archneur.60.4.598
Subject(s) - pathological , nerve biopsy , pathology , hereditary motor and sensory neuropathy , mutation , disease , consanguinity , phenotype , medicine , genetic heterogeneity , biology , degenerative disease , genetics , gene , peripheral neuropathy , endocrinology , diabetes mellitus
The first locus for demyelinating autosomal recessive Charcot-Marie-Tooth (ARCMT) disease was identified in 8q13, where mutations in GDAP1 have been found. Mutations in the same gene have been detected in families with axonal ARCMT disease.
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