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Article

GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.

Neuromuscular disorders : NMD - 1 Jan 2016

Pezzini I, Geroldi A, Capponi S, Gulli R, Schenone A, Grandis M, Doria-Lamba L, La Piana C, Cremonte M, Pisciotta C, Nolano M, Manganelli F, Santoro L, Mandich P, Bellone E

Abstract excerpt

Mutations in the ganglioside-induced differentiation associated-protein 1 (GDAP1) gene have been associated with both autosomal recessive (AR) and dominant (AD) Charcot-Marie-Tooth (CMT) axonal neuropathy. The relative frequency of heterozygous, dominant mutations in Italian CMT is unknown. We investigated the frequency of dominant mutations in GDAP1 in a cohort of 109 axonal Italian patients by sequencing...

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Source

Identifiers

PMID: 26525999
DOI: 10.1016/j.nmd.2015.09.008

Genes

GDAP1
MFN2
MPZ

Variants

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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