Publication details
Analysis of the CLCN1 gene in Czech patients with myotonia congenita
| Authors | |
|---|---|
| Year of publication | 2009 |
| Type | Conference abstract |
| MU Faculty or unit | |
| Citation | |
| Description | Myotonia congenita (MC) is a skeletal muscle ion channelopathy. It is caused by mutations in the CLCN1 gene, which encodes a chloride channel. We performed sequencing analysis of the CLCN1 gene in Czech patients. We assigned the mutations c.2680C > T and c.1437_1450del as the most prevalent in Czech population. By detecting mutations in the CLCN1 gene we confirmed the diagnosis of myotonia congenita in patients who were initially clinically diagnosed as myotonic dystrophy. |
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