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Charcot-Marie-Tooth disease due to the Thr124Met mutation in the myelin protein zero gene associated with multiple sclerosis

✍ Scribed by Yusuf A. Rajabally; Richard J. Abbott


Book ID
110760887
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
35 KB
Volume
10
Category
Article
ISSN
1085-9489

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Mutations in the myelin protein zero gen
✍ Philippe Latour; FranΓ§oise Blanquet; Eva Nelis; Christine Bonnebouche; FraΕ†oise πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 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