Article
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
Brain : a journal of neurology - 1 Apr 2007
Bouhouche Ahmed, Birouk Nazha, Azzedine Hamid, Benomar Ali, Durosier Garry, Ente Dorothée, Muriel Marie-Paule, Ruberg Merle, Slassi Ilham, Yahyaoui Mohamed, Dubourg Odile, Ouazzani Reda, LeGuern Eric
Abstract excerpt
Charcot-Marie-Tooth disease is a genetically heterogeneous group of hereditary motor and sensory neuropathies. Three loci for the axonal autosomal recessive subgroup (ARCMT2) have been reported in 1q21 (CMT2B1, LMNA), 8q21 (CMT4A and CMT2K, GDAP1) and 19q13 (CMT2B2). We report here a clinical, electrophysiological, pathological and genetic study in 13 Moroccan families with ARCMT2 phenotypes. Clinical and...
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