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Phenotypic expression of a Pro 87 to Leu mutation in the connexin 32 gene in a large Swiss family with Charcot–Marie–Tooth neuropathy

✍ Scribed by Thierry Kuntzer; Murielle Dunand; Daniel F Schorderet; Jean-Michel Vallat; Angelika F Hahn; Julien Bogousslavsky


Book ID
119465800
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
401 KB
Volume
207
Category
Article
ISSN
0022-510X

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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)