Article
Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.
Nature genetics - 1 Dec 1995
Watkins H, Conner D, Thierfelder L, Jarcho J A, MacRae C, McKenna W J, Maron B J, Seidman J G, Seidman C E
Abstract excerpt
Familial hypertrophic cardiomyopathy (FHC) is an autosomal dominant disorder manifesting as cardiac hypertrophy with myocyte disarray and an increased risk of sudden death. Mutations in five different loci cause FHC and 3 disease genes have been identified: beta cardiac myosin heavy chain, alpha...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Base Sequence
- Cardiomyopathy, Hypertrophic
- Carrier Proteins
- Child
- Chromosomes, Human, Pair 11
- Female
- Genetic Linkage
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- RNA Splicing