Article
Analysis of SCN5A Gene Variants in East Slovak Patients with Cardiomyopathy.
Journal of clinical laboratory analysis - 1 Mar 2017
Priganc Mariana, Zigová Michaela, Boroňová Iveta, Bernasovská Jarmila, Dojčáková Dana, Szabadosová Viktória, Mydlárová Blaščáková Marta, Tóthová Iveta, Kmec Ján, Bernasovský Ivan
Abstract excerpt
OBJECTIVE: Mutations in ion channels genes are potential cause of cardiomyopathy. The SCN5A gene (sodium channel, voltage gated, type V alpha subunit gene; 3p21) belongs to the family of cardiac sodium channel genes. Mutations in SCN5A gene lead to decreased Na+ current and ion unbalance. The SCN5A gene mutations are found in approximately 2% of patients with dilated cardiomyopathy (DCM), and they may be...
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