Article
Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.
Human mutation - 1 Jan 1998
Tesson F, Richard P, Charron P, Mathieu B, Cruaud C, Carrier L, Dubourg O, Lautié N, Desnos M, Millaire A, Isnard R, Hagege A A, Bouhour J B, Bennaceur M, Hainque B, Guicheney P, Schwartz K, Komajda M
Abstract excerpt
Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease in which one of the most frequently implicated gene is the gene encoding the beta-myosin heavy chain. To date, more than 40 distinct mutations have been found within this gene. In order to progress on the determination of genotype-phenotype relationship, we have screened the beta-myosin heavy chain gene for mutations in 18 probands from...
Topics
- Adolescent
- Adult
- Aged
- Amino Acid Sequence
- Cardiomyopathy, Hypertrophic
- Child
- DNA Mutational Analysis
- Electrocardiography
- Genotype
- Humans