Molecular genetic studies of familial hypertrophic cardiomyopathy

CE Seidman, JG Seidman - Basic research in cardiology, 1998 - Springer
CE Seidman, JG Seidman
Basic research in cardiology, 1998Springer
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.
Abstract
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.
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