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

Neuromuscular disorders : NMD - 1 Jun 2021

Figueiredo Fernanda Barbosa, Silva Wilson Araújo, Giuliatti Silvana, Tomaselli Pedro José, Lourenço Charles Marques, Gouvêa Silmara de Paula, Covaleski Anna Paula Paranhos Miranda, Hallak Jaime E, Marques Wilson

Abstract excerpt

Mutations in ganglioside-induced differentiation-associated-protein 1 (GDAP1) are associated with several subtypes of Charcot-Marie-Tooth (CMT) disease, including autosomal recessive and demyelinating (CMT4A); autosomal recessive and axonal (AR-CMT2K); autosomal dominant and axonal (CMT2K); and an intermediate and recessive form (CMTRIA). To date, at least 103 mutations in this gene have been described, but the...

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PMID: 33903021
DOI: 10.1016/j.nmd.2021.03.005

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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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