Informace o publikaci
Congenital Myotonia Caused by Mutations in the CIC-1 Chloride Channel Gene
| Autoři | |
|---|---|
| Rok publikování | 2011 |
| Druh | Článek v odborném periodiku |
| Časopis / Zdroj | Ceska a slovenska neurologie a neurochirurgie |
| Fakulta / Pracoviště MU | |
| Citace | |
| Obor | Genetika a molekulární biologie |
| Klíčová slova | myotonia congenita; CLCN1; channelopathy |
| Popis | Congenital myotonia is caused by mutations in the CLCN1 chloride channel gene. It can be inherited as either an autosomal dominant (Thomsen's myotonia) or a recessive (Becker's myotonia) trait.All the cases but one are sporadic, thus the majority of patients in our population have Becker's form of myotonia congenita. |
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