Article
Counselling issues in familial hypertrophic cardiomyopathy.
Journal of medical genetics - 1 Mar 1998
Yu B, French J A, Jeremy R W, French P, McTaggart D R, Nicholson M R, Semsarian C, Richmond D R, Trent R J
Abstract excerpt
To illustrate the variable clinical presentations and rates of progression in familial hypertrophic cardiomyopathy (FHC), phenotypes and genotypes were compared in three FHC families with different genetic defects. In the first family, the FHC abnormality was a protein truncating mutation (Gln969X) in the cardiac myosin binding protein C gene. The second family had a missense change (Asn755Lys) in the same gene....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.