Article
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype.
The Journal of biological chemistry - 5 Aug 2005
Mirza Mahmooda, Marston Steven, Willott Ruth, Ashley Christopher, Mogensen Jens, McKenna William, Robinson Paul, Redwood Charles, Watkins Hugh
Abstract excerpt
Dilated cardiomyopathy (DCM), characterized by cardiac dilatation and contractile dysfunction, is a major cause of heart failure. Inherited DCM can result from mutations in the genes encoding cardiac troponin T, troponin C, and alpha-tropomyosin; different mutations in the same genes cause hypertrophic cardiomyopathy. To understand how certain mutations lead specifically to DCM, we have investigated their effect...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
