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

✍ Scribed by Petr Vondracek; Pavel Seeman; Marketa Hermanova; Lenka Fajkusova

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
74 KB
Volume
31
Category
Article
ISSN
0148-639X

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✦ Synopsis

Abstract

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. The electrophysiological findings were consistent with a primary demyelinating neuropathy with secondary axonal loss and support this model of disease progression. All patients having the CMT phenotype and intermediate conduction velocities who are negative for CMT1A duplication/hereditary neuropathy with liability to pressure palsies (HNPP) deletion, and whose family shows a dominant trait without male‐to‐male transmission, should be screened for CMTX1. Muscle Nerve, 2004

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