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Article

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

Nature genetics - 1 Jan 2002

Cuesta Ana, Pedrola Laia, Sevilla Teresa, García-Planells Javier, Chumillas María José, Mayordomo Fernando, LeGuern Eric, Marín Ignacio, Vílchez Juan J, Palau Francesc

Abstract excerpt

We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were previously linked to the CMT4A locus on chromosome 8q21.1. These results establish the molecular etiology of CMT4A (MIM 2144...

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Source

Identifiers

PMID: 11743580
DOI: 10.1038/ng798

Genes

GDAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11743580-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.PMID 11743580Read ↗

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