Congenital Myotonia Caused by Mutations in the CIC-1 Chloride Channel Gene
| Authors | |
|---|---|
| Year of publication | 2011 |
| Type | Article in Periodical |
| Magazine / Source | Ceska a slovenska neurologie a neurochirurgie |
| MU Faculty or unit | |
| Citation | |
| Field | Genetics and molecular biology |
| Keywords | myotonia congenita; CLCN1; channelopathy |
| Description | 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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