Article
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
Circulation - 6 May 2003
Richard Pascale, Charron Philippe, Carrier Lucie, Ledeuil Céline, Cheav Theary, Pichereau Claire, Benaiche Abdelaziz, Isnard Richard, Dubourg Olivier, Burban Marc, Gueffet Jean-Pierre, Millaire Alain, Desnos Michel, Schwartz Ketty, Hainque Bernard, Komajda Michel
Abstract excerpt
BACKGROUND: Hypertrophic cardiomyopathy is an autosomal-dominant disorder in which 10 genes and numerous mutations have been reported. The aim of the present study was to perform a systematic screening of these genes in a large population, to evaluate the distribution of the disease genes, and to determine the best molecular strategy in clinical practice. METHODS AND RESULTS: The entire coding sequences of 9...
Topics
- Cardiomyopathy, Hypertrophic, Familial
- Carrier Proteins
- Genetic Predisposition to Disease
- Genotype
- Humans
- Molecular Diagnostic Techniques
- Mutation
- Myosin Heavy Chains
- Prognosis