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Article

Mild form of Charcot-Marie-Tooth type 1X disease caused by a novel Cys179Gly mutation in the GJB1/Cx32 gene.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Oct 2009

Moszyńka I, Kabzińska D, Kochański A

Abstract excerpt

Charcot-Marie-Tooth type 1X (CMT1X) disease is inherited as an X-linked dominant trait. Female CMT1X patients are usually mildly affected or even asymptomatic carriers of mutations in the GJB1 gene coding for a gap junction protein called connexin-32 (Cx32). In this report, a five-generation CMT1...

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Source

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Identifiers

PMID: 20128140
PMCID: PMC2858952

Genes

GJB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20128140-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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