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Article

Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease. Phenotypic variability and central nervous system involvement.

Journal of the neurological sciences - 15 Jun 2014

Karadima Georgia, Koutsis Georgios, Raftopoulou Maria, Floroskufi Paraskewi, Karletidi Karolina-Maria, Panas Marios

Abstract excerpt

Charcot-Marie-Tooth (CMT) disease, the most common hereditary neuropathy, is clinically and genetically heterogeneous. X-linked CMT (CMTX) is usually caused by mutations in the gap junction protein b 1 gene (GJB1) coding for connexin 32 (Cx32). The clinical manifestations of CMTX are characterized by significant variability, with some patients exhibiting central nervous system (CNS) involvement. We report four...

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Identifiers

PMID: 24768312
DOI: 10.1016/j.jns.2014.04.007

Genes

GJB1

Variants

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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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