Article
Hypertrophic cardiomyopathy in cardiac myosin binding protein-C knockout mice.
Circulation research - 22 Mar 2002
Harris Samantha P, Bartley Christopher R, Hacker Timothy A, McDonald Kerry S, Douglas Pamela S, Greaser Marion L, Powers Patricia A, Moss Richard L
Abstract excerpt
Familial hypertrophic cardiomyopathy (FHC) is an inherited autosomal dominant disease caused by mutations in sarcomeric proteins. Among these, mutations that affect myosin binding protein-C (MyBP-C), an abundant component of the thick filaments, account for 20% to 30% of all mutations linked to FHC. However, the mechanisms by which MyBP-C mutations cause disease and the function of MyBP-C are not well understood....
Topics
- Actin Cytoskeleton
- Animals
- Blotting, Northern
- Blotting, Western
- Calcium
- Cardiomyopathy, Hypertrophic
- Carrier Proteins
- Echocardiography
- Gene Targeting
- Heterozygote
- Homozygote