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Article

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.

Neuromuscular disorders : NMD - 1 Nov 2003

Ammar Nadia, Nelis Eva, Merlini Luciano, Barisić Nina, Amouri Rim, Ceuterick Chantal, Martin Jean Jacques, Timmerman Vincent, Hentati Fayçal, De Jonghe Peter

Abstract excerpt

Mutations in the ganglioside-induced differentiation-associated protein 1 gene cause either autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A or autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis. We sequenced the ganglioside-induced differentiation-associated protein 1 gene in 138 patients from 119 unrelated families diagnosed with either demyelinating or axonal...

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Source

Identifiers

PMID: 14561495
DOI: 10.1016/s0960-8966(03)00093-2

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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Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.PMID 14561495Read ↗

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.Semantic proximity Read ↗

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The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.Semantic proximity Read ↗

GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Mutational screening of GDAP1 in dysphonia associated with Charcot-Marie-Tooth disease: clinical insights and phenotypic effectsSemantic proximity Read ↗

Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A.Semantic proximity Read ↗

Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene.Semantic proximity Read ↗

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