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Article

Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene.

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

Stancanelli Claudia, Taioli Federica, Testi Silvia, Fabrizi Gian Maria, Arena Maria Grazia, Granata Francesca, Russo Massimo, Gentile Luca, Vita Giuseppe, Mazzeo Anna

Abstract excerpt

In this study, we report a novel connexin 32 (CX32) mutation associated with cognitive impairment and a differential degree of peripheral nerve involvement. We present clinical, electrophysiological, and neuroimaging data on a family with X-linked Charcot-Marie-Tooth disease caused by a 41A>G mutation of the gap junction protein beta 1 (GJB1) gene. The proband and her sister presented with a severe neuropathy...

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Source

Identifiers

PMID: 23279342
DOI: 10.1111/j.1529-8027.2012.00439.x

Genes

GJB1

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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