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Article

Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.

Archives of neurology - 1 Apr 2003

Birouk Nazha, Azzedine Hamid, Dubourg Odile, Muriel Marie-Paule, Benomar Ali, Hamadouche Tarik, Maisonobe Thierry, Ouazzani Reda, Brice Alexis, Yahyaoui Mohamed, Chkili Taïb, Le Guern Eric

Abstract excerpt

BACKGROUND: 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. OBJECTIVE: To determine the clinical, electrophysiologic, and morphologic characteristics of a consanguineous Moroccan family with ARCMT disease associated with...

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Source

Identifiers

PMID: 12707075
DOI: 10.1001/archneur.60.4.598

Genes

GDAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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