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Article

A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.

Orphanet journal of rare diseases - 26 Dec 2011

Cassereau Julien, Chevrollier Arnaud, Bonneau Dominique, Verny Christophe, Procaccio Vincent, Reynier Pascal, Ferré Marc

Abstract excerpt

BACKGROUND: The ganglioside-induced differentiation-associated protein 1 gene (GDAP1), which is involved in the Charcot-Marie-Tooth disease (CMT), the most commonly inherited peripheral neuropathy, encodes a protein anchored to the mitochondrial outer membrane. The phenotypic presentations of patients carrying GDAP1 mutations are heterogeneous, making it difficult to determine genotype-phenotype correlations,...

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Source

Open in PubMed Open full text

Identifiers

PMID: 22200116
DOI: 10.1186/1750-1172-6-87
PMCID: PMC3313893

Genes

GDAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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