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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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