𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease

✍ Scribed by Marttila, Maria; Rautenstrauss, Bernd; Huehne, Kathrin; Laitinen, Virpi; Majamaa, Kari; Kärppä, Mikko


Book ID
118784282
Publisher
Springer
Year
2012
Tongue
English
Weight
177 KB
Volume
259
Category
Article
ISSN
0340-5354

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


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