Hypertrophic cardiomyopathy - Molecular genetic analysis of exons 9 and 11 of the TNNT2 gene in Czech patients

Abstract

The AGlul 60 mutation was observed in patients with severe forms of hypertrophic cardiomyopothy. This region is responsible for binding troponin T to alpha-tropomyosin.

This mutation may lead to functional and structural effects on the troponin T protein

Keywords

• CARDIAC TROPONIN-T
• ALPHA-TROPOMYOSIN
• FAILING HEART
• MUTATIONS
• DISEASE
• ISOFORMS
• IDENTIFICATION
• SARCOMERE