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Article

Charcot-Marie-Tooth disease: New insights from skin biopsy.

Neurology - 6 Oct 2015

Manganelli Fiore, Nolano Maria, Pisciotta Chiara, Provitera Vincenzo, Fabrizi Gian M, Cavallaro Tiziana, Stancanelli Annamaria, Caporaso Giuseppe, Shy Michael E, Santoro Lucio

Abstract excerpt

OBJECTIVE: To evaluate, by skin biopsy, dermal nerve fibers in 31 patients with 3 common Charcot-Marie-Tooth (CMT) genotypes (CMT1A, late-onset CMT1B, and CMTX1), and rarer forms of CMT caused by mutations in RAB7 (CMT2B), TRPV4 (CMT2C), and GDAP1 (AR-CMT2K) genes. METHODS: We investigated axonal loss by quantifying Meissner corpuscles and intrapapillary myelinated endings and evaluated morphometric changes in...

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Identifiers

PMID: 26362287
DOI: 10.1212/WNL.0000000000001993
PMCID: PMC4607598

Genes

GDAP1
TRPV4

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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