CHROBÁKOVÁ, Táňa, Markéta HERMANOVÁ, Iva KROUPOVÁ, Petr VONDRÁČEK, Taťána MAŘÍKOVÁ, Radim MAZANEC, Josef ZÁMEČNÍK, Jan STANĚK, Miluše HAVLOVÁ a Lenka FAJKUSOVÁ. Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome. Neuromuscular Disorders. United States: PERGAMON-ELSEVIER SCIENCE LTD, 2004, roč. 14, č. 10, s. 659-665. ISSN 0960-8966. |
Další formáty:
BibTeX
LaTeX
RIS
@article{562994, author = {Chrobáková, Táňa and Hermanová, Markéta and Kroupová, Iva and Vondráček, Petr and Maříková, Taťána and Mazanec, Radim and Zámečník, Josef and Staněk, Jan and Havlová, Miluše and Fajkusová, Lenka}, article_location = {United States}, article_number = {10}, keywords = {Limb girdle muscular dystrophy; LGMD2A; calpain3; dysferlin; mRNA}, language = {eng}, issn = {0960-8966}, journal = {Neuromuscular Disorders}, title = {Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome}, volume = {14}, year = {2004} }
TY - JOUR ID - 562994 AU - Chrobáková, Táňa - Hermanová, Markéta - Kroupová, Iva - Vondráček, Petr - Maříková, Taťána - Mazanec, Radim - Zámečník, Josef - Staněk, Jan - Havlová, Miluše - Fajkusová, Lenka PY - 2004 TI - Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome JF - Neuromuscular Disorders VL - 14 IS - 10 SP - 659 EP - 659 PB - PERGAMON-ELSEVIER SCIENCE LTD SN - 09608966 KW - Limb girdle muscular dystrophy KW - LGMD2A KW - calpain3 KW - dysferlin KW - mRNA N2 - 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. ER -
CHROBÁKOVÁ, Táňa, Markéta HERMANOVÁ, Iva KROUPOVÁ, Petr VONDRÁČEK, Taťána MAŘÍKOVÁ, Radim MAZANEC, Josef ZÁMEČNÍK, Jan STANĚK, Miluše HAVLOVÁ a Lenka FAJKUSOVÁ. Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome. \textit{Neuromuscular Disorders}. United States: PERGAMON-ELSEVIER SCIENCE LTD, 2004, roč.~14, č.~10, s.~659-665. ISSN~0960-8966.
|