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Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population

✍ Scribed by C Casasnovas; I Banchs; J Corral; JA Martínez-Matos; V Volpini


Book ID
110888299
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
552 KB
Volume
70
Category
Article
ISSN
0009-9163

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X-linked Charcot-Marie-Tooth disease: Mo
✍ Niewiadomski, Laura A.; Kelly, Thaddeus E. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 340 KB 👁 2 views

This report describes two families with type 1 Charcot-Marie-Tooth disease (CMTX), or hereditary motor sensory neuropathy type 1. Pedigree analysis is consistent with Xlinked recessive inheritance in one family and X-linked dominant inheritance in the second. In the first family, a mutation in the c