Molecular diagnostics of limb-girdle muscular dystrophies.
|Fakulta / Pracoviště MU|
|Popis||The diagnostic of limb-girdle muscular dystrophies needs to integrate clinical analysis, protein analysis in muscle biopsies, and genetic testing in specialized centres. In Czech Republic, the LGMD2A represent the most frequent LGMD, which was confirmed in 37 patients. In 6 patients the diagnosis of LGMD2I and LGMD2D was confirmed.|