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X-linked Charcot-Marie-Tooth disease with novel c.47A>T GJB1 gene mutation

✍ Scribed by Alexander F. J. E. Vrancken; Wim G. M. Spliet; Fred Van Ruissen


Book ID
109116334
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
431 KB
Volume
15
Category
Article
ISSN
1085-9489

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X-linked Charcot–Marie–Tooth disease: Ph
✍ Petr Vondracek; Pavel Seeman; Marketa Hermanova; Lenka Fajkusova 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 74 KB

## 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)