Molecular genetic studies of familial hypertrophic cardiomyopathy.
Molecular genetic studies of FHC have defined this as disease of the sarcomere. Multiple different mutations in six disease genes, which appear to act through a dominant negative mechanism, have been identified. A relevant murine model of human FHC has been developed. Assessment of the influences that genetics and environment play in disease expression may in the future help direct patient management and assist in the development of novel therapeutics.
Seidman
C E
CE
Dept. of Genetics, Harvard Medical School, Boston, MA 02115, USA.
Seidman
J G
JG
D000818:Animals; D002312:Cardiomyopathy, Hypertrophic / Q000209:etiology / Q000235:genetics*; D006801:Humans; D009154:Mutation; D020107:Troponin T / Q000235:genetics
D020107:Troponin T