X-linked Charcot–Marie–Tooth disease: Ph
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Petr Vondracek; Pavel Seeman; Marketa Hermanova; Lenka Fajkusova
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Article
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2005
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John Wiley and Sons
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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)