Загрузка...
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita
Myotonia congenita (MC) is an inherited muscle disease characterized by impaired muscle relaxation after contraction, resulting in muscle stiffness. Both recessive (Becker’s disease) or dominant (Thomsen’s disease) MC are caused by mutations in the CLCN1 gene encoding the voltage-dependent chloride...
Сохранить в:
| Опубликовано в: : | Neuromolecular Med |
|---|---|
| Главные авторы: | , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Springer US
2015
|
| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4534513/ https://ncbi.nlm.nih.gov/pubmed/26007199 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12017-015-8356-8 |
| Метки: |
Добавить метку
Нет меток, Требуется 1-ая метка записи!
|