title: Clinical, electrophysiological and genetic studies of two families with mutations in the GDAP1 gene.
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.
authors.affiliation: Department of médecine physique et de réadaptation pédiatrique, centre hospitalier universitaire, Saint-Etienne, France.
authors.forename: C
authors.initials: C
authors.lastname: Rougeot
authors.forename: S
authors.initials: S
authors.lastname: Chabrier
authors.forename: J-P
authors.initials: JP
authors.lastname: Camdessanche
authors.forename: F
authors.initials: F
authors.lastname: Prieur
authors.forename: M-C
authors.initials: MC
authors.lastname: d'Anjou
authors.forename: P
authors.initials: P
authors.lastname: Latour
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D004594:Electrophysiology / Q000379:methods; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
chemical_list: C118663:GDAP protein; D009419:Nerve Tissue Proteins