Article
Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene.
Journal of molecular and cellular cardiology - 1 Dec 2000
Enjuto M, Francino A, Navarro-López F, Viles D, Paré J C, Ballesta A M
Abstract excerpt
Mutations causing hypertrophic cardiomyopathy have been described in nine genes encoding sarcomeric proteins. We report a new mutation in three families, with a C-->G transversion in nucleotide 12 307 of the beta-myosin heavy chain gene, located at the essential light chain interacting region, resulting in the replacement of arginine by glycine at amino acid residue 723. PCR amplification of the selected regions...
Topics
- Adult
- Age Factors
- Aged
- Arginine
- Cardiomyopathies
- Electrocardiography
- Female
- Glycine
- Humans
- Life Expectancy
- Male
- Middle Aged
- Mutation
- Mutation, Missense
- Myosin Heavy Chains