Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome

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Authors	CHROBÁKOVÁ Táňa HERMANOVÁ Markéta KROUPOVÁ Iva VONDRÁČEK Petr MAŘÍKOVÁ Taťána MAZANEC Radim ZÁMEČNÍK Josef STANĚK Jan HAVLOVÁ Miluše FAJKUSOVÁ Lenka
Year of publication	2004
Type	Article in Periodical
Magazine / Source	Neuromuscular Disorders
MU Faculty or unit	Faculty of Science
Citation
Field	Neurology, neurosurgery, neurosciences
Keywords	Limb girdle muscular dystrophy; LGMD2A; calpain3; dysferlin; mRNA
Description	This study reports nine mutations that we found by analysing mRNA of seven unrelated LGMD patients in the Czech Republic. Three of these mutations were novel, not described on the Leiden muscular dystrophy pages so far. Further, we observed a reduction of dysferlin in muscle membrane in five of our seven LGMD2A patients by immunohistochemical analysis of muscle sections.
Related projects:	Genomes and their functions