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Article

Clinical, electrophysiological and genetic studies of two families with mutations in the GDAP1 gene.

Neuropediatrics - 1 Jun 2008

Rougeot C, Chabrier S, Camdessanche J-P, Prieur F, d'Anjou M-C, Latour P

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18991200
DOI: 10.1055/s-0028-1085467

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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