HERMANOVÁ, Markéta, Eva ZAPLETALOVÁ, Jana SEDLÁČKOVÁ, Táňa CHROBÁKOVÁ, Ondřej LETOCHA, Iva KROUPOVÁ, Josef ZÁMEČNÍK, Petr VONDRÁČEK, Radim MAZANEC, Taťána MAŘÍKOVÁ, Stanislav VOHÁŇKA a Lenka FAJKUSOVÁ. Analysis of histopathologic and molecular pathologic findings in czech LGMD2A patients. Muscle & Nerve. USA: John Wiley & Sons Inc, 2006, roč. 33, March, s. 424-432. ISSN 0148-639X. |
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@article{706516, author = {Hermanová, Markéta and Zapletalová, Eva and Sedláčková, Jana and Chrobáková, Táňa and Letocha, Ondřej and Kroupová, Iva and Zámečník, Josef and Vondráček, Petr and Mazanec, Radim and Maříková, Taťána and Voháňka, Stanislav and Fajkusová, Lenka}, article_location = {USA}, article_number = {March}, keywords = {LGMD2A; muscle biopsy; mutational analysis; neurogenic pattern}, language = {eng}, issn = {0148-639X}, journal = {Muscle & Nerve}, title = {Analysis of histopathologic and molecular pathologic findings in czech LGMD2A patients}, volume = {33}, year = {2006} }
TY - JOUR ID - 706516 AU - Hermanová, Markéta - Zapletalová, Eva - Sedláčková, Jana - Chrobáková, Táňa - Letocha, Ondřej - Kroupová, Iva - Zámečník, Josef - Vondráček, Petr - Mazanec, Radim - Maříková, Taťána - Voháňka, Stanislav - Fajkusová, Lenka PY - 2006 TI - Analysis of histopathologic and molecular pathologic findings in czech LGMD2A patients JF - Muscle & Nerve VL - 33 IS - March SP - 424 EP - 424 PB - John Wiley & Sons Inc SN - 0148639X KW - LGMD2A KW - muscle biopsy KW - mutational analysis KW - neurogenic pattern N2 - Histopathologic and molecular pathologic findings were examined in 14 LGMD2A patients. Analysis of the CAPN3 gene was performed at the mRNA level and/or DNA level. Immunoblot analysis revealed the deficiency of p94 in all genetically confirmed cases, and secondary dysferlin deficiency was demonstrated in 6 patients. In muscle tissues of two patients, a neurogenic pattern simulating neurogenic lesion was observed. ER -
HERMANOVÁ, Markéta, Eva ZAPLETALOVÁ, Jana SEDLÁČKOVÁ, Táňa CHROBÁKOVÁ, Ondřej LETOCHA, Iva KROUPOVÁ, Josef ZÁMEČNÍK, Petr VONDRÁČEK, Radim MAZANEC, Taťána MAŘÍKOVÁ, Stanislav VOHÁŇKA a Lenka FAJKUSOVÁ. Analysis of histopathologic and molecular pathologic findings in czech LGMD2A patients. \textit{Muscle \&{} Nerve}. USA: John Wiley \&{} Sons Inc, 2006, roč.~33, March, s.~424-432. ISSN~0148-639X.
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