Article
Functional analysis of a unique troponin c mutation, GLY159ASP, that causes familial dilated cardiomyopathy, studied in explanted heart muscle.
Circulation. Heart failure - 1 Sept 2009
Dyer Emma C, Jacques Adam M, Hoskins Anita C, Ward Douglas G, Gallon Clare E, Messer Andrew E, Kaski Juan Pablo, Burch Michael, Kentish Jonathan C, Marston Steven B
Abstract excerpt
BACKGROUND: Familial dilated cardiomyopathy can be caused by mutations in the proteins of the muscle thin filament. In vitro, these mutations decrease Ca(2+) sensitivity and cross-bridge turnover rate, but the mutations have not been investigated in human tissue. We studied the Ca(2+)-regulatory properties of myocytes and troponin extracted from the explanted heart of a patient with inherited dilated...
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