Article
How do mutations in contractile proteins cause the primary familial cardiomyopathies?
Journal of cardiovascular translational research - 1 Jun 2011
Marston Steven B
Abstract excerpt
In this article, the available evidence about the functional effects of the contractile protein mutations that cause hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) is assessed. The molecular mechanism of the contractile apparatus of cardiac muscle and its regulation by Ca(2+) and PKA phosphorylation have been extensively studied. Therefore, when a number of point mutations in the contractile...
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