Article
Prognostic significance of beta-myosin heavy chain mutations is reflective of their hypertrophic expressivity in patients with hypertrophic cardiomyopathy.
Journal of investigative medicine : the official publication of the American Federation for Clinical Research - 1 Apr 1997
Abchee A, Marian A J
Abstract excerpt
BACKGROUND: Genotype-phenotype correlation studies consistently have shown that mutations are prognosticators in patients with hypertrophic cardiomyopathy (HCM). While Arginine (Arg)719Tryptophan (Trp) mutation in the beta-myosin heavy chain (MyHC) gene is associated with a high incidence of sudd...
Topics
- Adult
- Cardiomyopathy, Hypertrophic
- Child
- Child, Preschool
- Death, Sudden, Cardiac
- Echocardiography
- Family
- Female
- Genotype
- Humans
- Hypertrophy, Left Ventricular
- Male
- Myocardium
- Myosin Heavy Chains
- Point Mutation
- Polymerase Chain Reaction