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Article

Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene.

Neuromuscular disorders : NMD - 1 May 2003

Azzedine H, Ruberg M, Ente D, Gilardeau C, Périé S, Wechsler B, Brice A, LeGuern E, Dubourg O

Abstract excerpt

Charcot-Marie-Tooth (CMT) with autosomal recessive (AR) inheritance is a heterogeneous group of inherited motor and sensory neuropathies. Six genes and five additional loci have been identified that are responsible for either demyelinating or axonal forms of the disease. The gene encoding the ganglioside-induced-differentiation-associated protein 1 (GDAP1) has been associated with both demyelinating and axonal...

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Identifiers

PMID: 12868504

Genes

GDAP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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