První zkušenosti s molekulární diagnostikou kongenitální myotonie
Title in English | Our first experience with molecular diagnostics of myotonia congenita |
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Authors | |
Year of publication | 2009 |
Type | Conference abstract |
MU Faculty or unit | |
Citation | |
Description | Myotonia congenita is one of the most common channnelopathies affecting skeletal muscle. Introduction of molecular diagnostics of myotonia congenita confirms the clinical diagnosis and enables the complex genetic counselling in affected families. |
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