[Hypertrophic cardiomyopathy: practical application of genetic research].

Abstract excerpt

Hypertrophic cardiomyopathy is usually familial with an autosomal dominant mode of transmission. The condition is genetically heterogeneous. The first defective gene to be described was that of the beta heavy chain of cardiac myosin (beta-MHC, chromosome 14 q11-q12) where over 20 different localised false sense mutations and a hot point of mutation in exon 13 have been reported. This locus seems to be implicated...

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