Effect of hypertrophic cardiomyopathy mutations in human cardiac muscle alpha -tropomyosin (Asp175Asn and Glu180Gly) on the regulatory properties of human cardiac troponin determined by in vitro motility assay.


The properties of mutant contractile proteins that cause hypertrophic cardiomyopathy (HCM) have been investigated in expression studies and in mouse models. There is growing evidence that the precise isoforms of both the mutated protein and its interacting partners can qualitatively influence the effects of the mutation. We therefore investigated the… (More)


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