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A V38A mutation in X-linked Charcot-Marie-Tooth neuropathy with unusual clinical features

โœ Scribed by Georgia Karadima; Marios Panas; Paraskewi Floroskufi; Nikolaos Kalfakis; Demetris Vassilopoulos


Publisher
Springer
Year
2004
Tongue
English
Weight
201 KB
Volume
251
Category
Article
ISSN
0340-5354

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## Abstract Introduction: In this study we report a novel mutation in the gap junction protein beta 1 (__GJB1__) gene of a Chinese Xโ€linked Charcotโ€“Marieโ€“Tooth disease (CMTX1) family, which has specific electrophysiological characteristics. Methods: Twenty members in the family were studied by clin