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@inproceedings{622825,
author = {Hermanová, Markéta and Fajkusová, Lenka and Zapletalová, Eva and Sedláčková, Jana and Vondráček, Petr and Zámečník, J.},
address = {Neuveden},
booktitle = {Neuromuscular disorders},
keywords = {LGMD2A; calpain3; RT-PCR},
language = {eng},
location = {Neuveden},
pages = {690-690},
publisher = {Pergamon},
title = {Analysis of histopathologic and molecular genetic findings in Czech LGMD2A patients},
year = {2005}
}
TY - JOUR
ID - 622825
AU - Hermanová, Markéta - Fajkusová, Lenka - Zapletalová, Eva - Sedláčková, Jana - Vondráček, Petr - Zámečník, J.
PY - 2005
TI - Analysis of histopathologic and molecular genetic findings in Czech LGMD2A patients
PB - Pergamon
CY - Neuveden
KW - LGMD2A
KW - calpain3
KW - RT-PCR
N2 - Limb girdle muscular dystrophy type 2A (LGMD2A), the most prevalent recessive form of LGMD, is caused by single or small nucleotide changes widespread along the CAPN3 gene, which encodes the musclespecific proteolytic enzyme calpain-3 (p94). In 14 LGMD2A patients, analysis of the CAPN3 gene at both the mRNA level using reverse transcription-PCR and sequencing and at the DNA level using PCR and denaturing high performance liquid chromatography was performed.
ER -
HERMANOVÁ, Markéta, Lenka FAJKUSOVÁ, Eva ZAPLETALOVÁ, Jana SEDLÁČKOVÁ, Petr VONDRÁČEK a J. ZÁMEČNÍK. Analysis of histopathologic and molecular genetic findings in Czech LGMD2A patients. In \textit{Neuromuscular disorders}. Neuveden: Pergamon, 2005, s.~690. ISSN~0960-8966.
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