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.
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