Article
Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy.
The Journal of clinical investigation - 1 Jun 1993
Cuda G, Fananapazir L, Zhu W S, Sellers J R, Epstein N D
Abstract excerpt
Hypertrophic cardiomyopathy is an important inherited disease. The phenotype has been linked, in some kindreds, to the beta-myosin heavy chain (beta-MHC) gene. Missense and silent mutations in the beta-MHC gene were used as markers to demonstrate the expression of mutant and normal cardiac beta-M...
Topics
- Actin Cytoskeleton
- Actins
- Amino Acid Sequence
- Base Sequence
- Biopsy
- Cardiomyopathy, Hypertrophic
- Gene Expression
- Humans
- Molecular Sequence Data
- Movement
- Muscles
- Mutation
- Myosins
- Sequence Homology, Amino Acid