| HERMANOVÁ, Markéta, Eva ZAPLETALOVÁ, Jana SEDLÁČKOVÁ, Táňa CHROBÁKOVÁ, Ondřej LETOCHA, Iva KROUPOVÁ, Josef ZÁMEČNÍK, Petr VONDRÁČEK, Radim MAZANEC, Taťána MAŘÍKOVÁ, Stanislav VOHÁŇKA and Lenka FAJKUSOVÁ. Analysis of histopathologic and molecular pathologic findings in czech LGMD2A patients. Muscle & Nerve. USA: John Wiley & Sons Inc, 2006, vol. 33, March, p. 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 and Lenka FAJKUSOVÁ. Analysis of histopathologic and molecular pathologic findings in czech LGMD2A patients. \textit{Muscle \&{} Nerve}. USA: John Wiley \&{} Sons Inc, 2006, vol.~33, March, p.~424-432. ISSN~0148-639X.
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