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A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family.

Journal of the peripheral nervous system : JPNS - 1 Sept 2012

Manganelli Fiore, Pisciotta Chiara, Nolano Maria, Capponi Simona, Geroldi Alessandro, Topa Antonietta, Bellone Emilia, Suls Arvid, Mandich Paola, Santoro Lucio

Abstract excerpt

We report the clinical, electrophysiological, and skin biopsy findings of an Italian Charcot-Marie-Tooth disease type 2 (CMT2) family with a novel heterozygous GDAP1 mutation. We observed a marked intra-familial phenotypic variability, in age at onset and disease severity which ranged from a typical CMT phenotype to an asymptomatic status. Electrophysiological study, consistent with an axonal sensory-motor...

Topics

Adult
Aged
Charcot-Marie-Tooth Disease
Child
Female
Genes, Dominant
Genetic Carrier Screening
Humans
Italy
Male
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Nerve Tissue Proteins

Pedigree

Source

Identifiers

PMID: 22971097
DOI: 10.1111/j.1529-8027.2012.00414.x

Genes

GDAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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