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Three novel mutations and genetic epidemiology analysis of the Gap Junction Beta 1 (GJB1) gene among Hungarian Charcot-Marie-Tooth disease patients.

Neuromuscular disorders : NMD - 1 Oct 2016

Milley Gyorgy Mate, Varga Edina Timea, Grosz Zoltan, Bereznai Benjamin, Aranyi Zsuzsanna, Boczan Judit, Dioszeghy Peter, Kálmán Bernadette, Gal Aniko, Molnar Maria Judit

Abstract excerpt

Pathogenic variants of the gap junction beta 1 (GJB1) gene are responsible for the Charcot-Marie-Tooth neuropathy X type 1 (CMTX1). In this study, we report the mutation frequency of GJB1 in 210 Hungarian CMT patients and the phenotype comparison between male and female CMTX1 patients. Altogether, 13 missense substitutions were found in the GJB1 gene. Among them, 10 have been previously described as pathogenic...

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Source

Identifiers

PMID: 27544631
DOI: 10.1016/j.nmd.2016.07.012

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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