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.
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