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@proceedings{846545,
author = {Sedláčková, Jana and Voháňka, Stanislav and Hermanová, Markéta and Vondráček, Petr and Fajkusová, Lenka},
booktitle = {14th international congress of the world muscle society},
keywords = {CLCN1; myotonia congenita},
language = {eng},
title = {Analysis of the CLCN1 gene in Czech patients with myotonia congenita},
year = {2009}
}
TY - CONF
ID - 846545
AU - Sedláčková, Jana - Voháňka, Stanislav - Hermanová, Markéta - Vondráček, Petr - Fajkusová, Lenka
PY - 2009
TI - Analysis of the CLCN1 gene in Czech patients with myotonia congenita
KW - CLCN1
KW - myotonia congenita
N2 - Myotonia congenita (MC) is a skeletal muscle ion channelopathy. It is caused by mutations in the CLCN1 gene, which encodes a chloride channel. We performed sequencing analysis of the CLCN1 gene in Czech patients. We assigned the mutations c.2680C > T and c.1437_1450del as the most prevalent in Czech population. By detecting mutations in the CLCN1 gene we confirmed the diagnosis of myotonia congenita in patients who were initially clinically diagnosed as myotonic dystrophy.
ER -
SEDLÁČKOVÁ, Jana, Stanislav VOHÁŇKA, Markéta HERMANOVÁ, Petr VONDRÁČEK a Lenka FAJKUSOVÁ. Analysis of the CLCN1 gene in Czech patients with myotonia congenita. In \textit{14th international congress of the world muscle society}. 2009. ISSN~0960-8966.
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