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
✦ LIBER ✦
Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome
✍ Scribed by Geir J Braathen; Jette C Sand; Michael B Russell
- Book ID
- 115025063
- Publisher
- BioMed Central
- Year
- 2010
- Tongue
- English
- Weight
- 517 KB
- Volume
- 3
- Category
- Article
- ISSN
- 1756-0500
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
A de novo duplication in 17p11.2 and a n
✍
Kaisa Silander; Päivi Meretoja; Eva Nelis; Vincent Timmerman; Christine Van Broe
📂
Article
📅
1996
🏛
John Wiley and Sons
🌐
English
⚖ 742 KB
Dejerine-Sottas syndrome (DSS), or hereditary motor and sensory neuropathy (HMSN) type 111, is a severe hypertrophic demyelinating neuropathy with infantile onset. The clinical symptoms are similar to those found in Charcot-Marie-Tooth disease type 1 (CMT1) or HMSN type I patients, but they are more
An axonal form of Charcot-Marie-Tooth di
✍
Andrzej Kochanski; Dagmara Kabzinska; Adam Nowakowski; Hanna Drac; Irena Hausman
📂
Article
📅
2004
🏛
John Wiley and Sons
🌐
English
⚖ 27 KB
De novo mutation of the myelin Po gene i
✍
Tohru Ikegami; Garth Nicholson; Hiroyuki Ikeda; Akihiro Ishida; Heather Johnston
📂
Article
📅
1998
🏛
John Wiley and Sons
🌐
English
⚖ 314 KB
Charcot-Marie-Tooth disease: a novel Tyr
✍
Alejandro Leal; Corinna Berghoff; Martin Berghoff; Gerardo Del Valle; Carlos Con
📂
Article
📅
2003
🏛
Springer
🌐
English
⚖ 359 KB