Analysis of the CLCN1 gene in Czech patients with myotonia congenita

SEDLÁČKOVÁ, Jana, Stanislav VOHÁŇKA, Markéta HERMANOVÁ, Petr VONDRÁČEK and Lenka FAJKUSOVÁ. Analysis of the CLCN1 gene in Czech patients with myotonia congenita. In 14th international congress of the world muscle society. 2009. ISSN 0960-8966.

Basic information

• Original name: Analysis of the CLCN1 gene in Czech patients with myotonia congenita
• Name in Czech: Analýza CLCN1 genu u českých pacientů s kongenitální myotonií
• Authors: SEDLÁČKOVÁ, Jana, Stanislav VOHÁŇKA, Markéta HERMANOVÁ, Petr VONDRÁČEK and Lenka FAJKUSOVÁ.
• Edition: 14th international congress of the world muscle society, 2009.

Other information

• Original language: English
• Type of outcome: Conference abstract
• Field of Study: Genetics and molecular biology
• Country of publisher: United Kingdom of Great Britain and Northern Ireland
• Confidentiality degree: is not subject to a state or trade secret
• Impact factor: Impact factor: 2.977
• Organization unit: Faculty of Medicine
• ISSN: 0960-8966
• UT WoS: 000269589600312
• Keywords in English: CLCN1; myotonia congenita

Abstract

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.

Abstract (in Czech)

Kongenitální myotonie (MC) je kanálopatií postihující kosterní svalovinu. MC je způsobena mutacemi v genu CLCN1, který kóduje chloridový kanál. Provedli jsme sekvenční analýzu genu CLCN1 u českých pacientů. Nejčastějšími mutacemi v české populaci jsou c.2680C > T a c.1437_1450del. Nalezením mutace v CLCN1 genu jsme potvrdili diagnózu MC u pacientů, kteří byli původně diagnostikováni jako myotonická dystrofie.

Links

• LC06023, research and development project: Name: Integrované bioanalytické technologie pro mikroanalýzy a diagnostiku s využitím LIF a hmotnostní spektrometrie

Investor: Ministry of Education, Youth and Sports of the CR

• MSM0021622415, plan (intention): Name: Molekulární podstata buněčných a tkáňových regulací

Investor: Ministry of Education, Youth and Sports of the CR, Molecular basis of cell and tissue regulations