X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene

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Authors

VONDRÁČEK Petr SEEMAN Pavel HERMANOVÁ Markéta FAJKUSOVÁ Lenka

Year of publication 2005
Type Article in Periodical
Magazine / Source Muscle Nerve
MU Faculty or unit

Faculty of Informatics

Citation
Field Neurology, neurosurgery, neurosciences
Keywords X-linked Charcot-Marie-Tooth disease; Ile127Ser mutation; GJB1 gene
Description We report a family with X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Three affected family members are described, who underwent detailed clinical, electrophysiological, molecular genetic, and histopathological studies. A novel isoleucine at position 127 with serine (Ile127Ser) mutation in the gap junction protein beta 1 (GJB1) gene was detected.
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