Article
Expression of a missense mutation in the messenger RNA for beta-myosin heavy chain in myocardial tissue in hypertrophic cardiomyopathy.
The Journal of clinical investigation - 1 Jul 1992
Perryman M B, Yu Q T, Marian A J, Mares A, Czernuszewicz G, Ifegwu J, Hill R, Roberts R
Abstract excerpt
We have determined that a missense mutation in exon 13 of the beta-myosin heavy chain (beta MHC) gene is expressed in the messenger RNA (mRNA) isolated from a right ventricular endomyocardial biopsy obtained from the proband of a family with hypertrophic cardiomyopathy. The mutation is the result of a substitution of an adenine for a guanine residue in one allele of the beta MHC gene and creates a second...
Topics
- Base Sequence
- Cardiomyopathy, Hypertrophic
- Humans
- Molecular Sequence Data
- Mutation
- Myocardium
- Myosins
- Polymerase Chain Reaction
- RNA, Messenger