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Article

Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).

Journal of the peripheral nervous system : JPNS - 1 Sept 2016

Piscosquito Giuseppe, Saveri Paola, Magri Stefania, Ciano Claudia, Gandioli Claudia, Morbin Michela, Bella Daniela D, Moroni Isabella, Taroni Franco, Pareyson Davide

Abstract excerpt

Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive (AR) demyelinating neuropathy associated to SH3TC2 mutations, characterized by early onset, spine deformities, and cranial nerve involvement. We screened 43 CMT4 patients (36 index cases) with AR inheritance, demyelinating nerve conductions, and negative testing for PMP22 duplication, GJB1 and MPZ mutations, for SH3TC2 mutations. Twelve...

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Identifiers

PMID: 27231023
DOI: 10.1111/jns.12175
PMCID: PMC5592964

Genes

GJB1
MPZ
PMP22

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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