𝔖 Bobbio Scriptorium
✦   LIBER   ✦

An axonal form of Charcot-Marie-Tooth disease with a novel missense mutation in the myelin protein zero gene

✍ Scribed by Andrzej Kochanski; Dagmara Kabzinska; Adam Nowakowski; Hanna Drac; Irena Hausmanowa-Petrusewicz


Book ID
110760845
Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
27 KB
Volume
9
Category
Article
ISSN
1085-9489

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


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