Article
Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.
Journal of medical genetics - 1 Mar 1998
Yu B, French J A, Carrier L, Jeremy R W, McTaggart D R, Nicholson M R, Hambly B, Semsarian C, Richmond D R, Schwartz K, Trent R J
Abstract excerpt
DNA studies in familial hypertrophic cardiomyopathy (FHC) have shown that it is caused by mutations in genes coding for proteins which make up the muscle sarcomere. The majority of mutations in the FHC genes result from missense changes, although one of the most recent genes to be identified (car...
Topics
- Amino Acid Sequence
- Australia
- Cardiomyopathy, Hypertrophic
- Carrier Proteins
- DNA Mutational Analysis
- Female
- Genetic Linkage
- Haplotypes
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Myosins