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Article

Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease.

Genetic testing and molecular biomarkers - 1 Feb 2010

Brozková Dana, Mazanec Radim, Haberlová Jana, Sakmaryová Iva, Subrt Ivan, Seeman Pavel

Abstract excerpt

X-linked Charcot-Marie-Tooth (CMTX) disease is a hereditary motor and sensory neuropathy caused by mutations in the gap junction beta 1 gene (GJB1 codes for connexin 32). In this study we report six novel mutations p.Met1Arg, p.Leu9Phe, p.Ser17Tyr, p.Val63Phe, p.Val170Ile, and p.Leu212Phe in GJB1 and their phenotypic expression. These mutations affect both intracellular and extracellular parts of the GJB1...

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Identifiers

PMID: 20039784
DOI: 10.1089/gtmb.2009.0093

Genes

GJB1

Variants

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