𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Novel GJB1 mutation causing adult-onset Charcot–Marie–Tooth disease in a female patient

✍ Scribed by Martikainen, Mika H.; Majamaa, Kari


Book ID
123295828
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
216 KB
Volume
23
Category
Article
ISSN
0960-8966

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Novel mutations in the Charcot-Marie-Too
✍ Kathrin Huehne; Vladimir Benes; Christian Thiel; Cornelia Kraus; Wolfram Kress; 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB

Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous disorder of the peripheral nervous system. CMT type 1 is most frequently caused by a 1.4 Mb tandem duplication in chromosome 17p11.2 comprising the peripheral myelin protein 22 (PMP22) gene. Furthermore sequence variatio