Article
Detection of a new mutation in the beta-myosin heavy chain gene in an individual with hypertrophic cardiomyopathy.
The Journal of clinical investigation - 1 Dec 1992
Marian A J, Yu Q T, Mares A, Hill R, Roberts R, Perryman M B
Abstract excerpt
Familial hypertrophic cardiomyopathy (FHCM) is an autosomal dominant disease affecting primarily the myocardium. The gene responsible for FHCM has been localized to chromosome 14 in some families and several mutations have been described in the beta-myosin heavy chain (beta MHC), a candidate gene for the disease. We recently identified a family with HCM in whom we did not detect any of the known mutations in the...
Topics
- Aged
- Base Sequence
- Cardiomyopathy, Hypertrophic
- Exons
- Gene Expression
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Myosins
- Oligodeoxyribonucleotides