První zkušenosti s molekulární diagnostikou kongenitální myotonie

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Title in English Our first experience with molecular diagnostics of myotonia congenita
Authors

SEDLÁČKOVÁ Jana VOHÁŇKA Stanislav FAJKUSOVÁ Lenka

Year of publication 2009
Type Conference abstract
MU Faculty or unit

Faculty of Medicine

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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