𝔖 Bobbio Scriptorium
✦   LIBER   ✦

G.P.100 Biophysical characterization of hClC-1 chloride channel mutations associated with myotonia congenita

✍ Scribed by Desaphy, J.F.; Gramegna, G.; Dinardo, M.M.; Modoni, A.; Lo Monaco, M.; Conte Camerino, D.


Book ID
119333939
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
49 KB
Volume
22
Category
Article
ISSN
0960-8966

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Characterization of two new dominant ClC
✍ Morten Grunnet; Thomas Jespersen; Eskild Colding-Jørgensen; Marianne Schwartz; D 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 393 KB

## Abstract Voltage‐gated ClC‐1 chloride channels encoded by the __CLCN1__ gene have a major role in setting the membrane potential in skeletal muscle. More than 60 __CLCN1__ mutations have been associated with myotonia congenita. These mutations are traditionally classified as recessive (Becker's