Molekulárně patologická a genetická diagnostika pletencové svalové dystrofie LGMD2A: prezentace prvních případů diagnostikovaných v České republice

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Title in English	Molecular pathologic and genetic diagnostics of limb-girdle muscular dystrophy LGMD2A: presentation of first cases diagnosed in Czech republic
Authors	HERMANOVÁ Markéta MAZANEC Radim CHROBÁKOVÁ Táňa ZÁMEČNÍK Josef FAJKUSOVÁ Lenka MAŘÍKOVÁ Táňa KROUPOVÁ Iva STANĚK Josef VONDRÁČEK Petr HAVLOVÁ Miluše KŘEN Leoš MAZANEC Radim ZÁMEČNÍK Josef STANĚK Josef HAVLOVÁ Miluše
Year of publication	2004
Type	Article in Periodical
Magazine / Source	Česká a slovenská neurologie a neurochirurgie
MU Faculty or unit	Faculty of Medicine
Citation
Field	Neurology, neurosurgery, neurosciences
Keywords	LGMD; calpain-3; dysferlin; Western blotting; mutational analysis
Description	Presentation of first LGMD2A patients diagnosed in Czech Republic. We have revealed 8 mutations in CAPN3 gene and secondary deficiency of dysferlin on muscle membranes was demonstrated in 4 cases.
Related projects:	Genomes and their functions