Genetic variation screening of TNNT2 Gene in a cohort of patients with hypertrophic and dilated cardiomyopathy

Abstrakt

Mutations in troponin T (TNNT2) gene represent the important part of currently identified disease-causing mutations in hypertrophic (HCM) and dilated (DCM) cardiomyopathy. The aim of this study was to analyze TNNT2 gene exons in patients with HCM and DCM diagnosis to improve diagnostic and genetic consultancy in affected families.

Klíčová slova

• Cardiomyopathy
• Genetic variations (mutation, polymorphism, deletion)
• TNNT2
• Gene