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Autonomic and respiratory dysfunction in Charcot–Marie–Tooth disease due to Thr124Met mutation in the myelin protein zero gene

✍ Scribed by T Stojkovic; J de Seze; O Dubourg; M.C Arne-Bes; S Tardieu; J.C Hache; P Vermersch


Book ID
119606511
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
138 KB
Volume
114
Category
Article
ISSN
1388-2457

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Mutations in the myelin protein zero gen
✍ Philippe Latour; Françoise Blanquet; Eva Nelis; Christine Bonnebouche; Fraņoise 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 437 KB

Communicated by Jean-Louis Mandel Charcot-Marie-Tooth type 1 (CMT1) disease is an autosomal dominant neuropathy of the peripheral nerve. The majority of CMT 1 cases are due to a duplication of an 1.5-Mb DNA fragment on chromosome 17pl1.2 (CMT la). Micromutations were found in the gene for peripheral