Cellular and molecular aspects of familial hypertrophic cardiomyopathy caused by mutations in the cardiac troponin I gene.

Abstract excerpt

Mutations in the cardiac troponin I (CTnI) gene occur in approximately 5% of families with familial hypertrophic cardiomyopathy (FHC) and 20 mutations in this gene that cause FHC have now been described. The clinical manifestations of CTnI mutations that cause FHC are diverse, ranging from asymptomatic with high life expectancy to severe heart failure and sudden cardiac death. Most of these FHC mutations in CTnI...

Topics

• Amino Acid Sequence
• Animals
• Arginine
• Base Sequence
• Binding Sites
• Calcium
• Cardiomyopathy, Hypertrophic, Familial
• Codon
• DNA
• Humans
• In Vitro Techniques