Details

Autor(en) / Beteiligte

• Vondracek, Petr
• Seeman, Pavel
• Hermanova, Marketa
• Fajkusova, Lenka

Titel

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

Ist Teil von

• Muscle & nerve, 2005-02, Vol.31 (2), p.252-255

Ort / Verlag

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Erscheinungsjahr

2005

Quelle

Wiley Online Library - AutoHoldings Journals

Beschreibungen/Notizen

• 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