Molecular genetic studies of familial hypertrophic cardiomyopathy

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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1. Dept. of Genetics, Harvard Medical School, Alpert Building Room 533, 200 Longwood Ave, Boston, MA 02115, USA, , , , , , US

   C.E. Seidman & J.G. Seidman

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1. C.E. Seidman
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2. J.G. Seidman
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Seidman, C., Seidman, J. Molecular genetic studies of familial hypertrophic cardiomyopathy. Basic Res Cardiol 93 (Suppl 3), s013–s016 (1998). https://doi.org/10.1007/s003950050196

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• Issue Date: December 1998

• DOI: https://doi.org/10.1007/s003950050196

Keywords

• Cardiomyopathy
• Genetic Study
• Murine Model
• Patient Management
• Disease Gene