Article
Role of titin in cardiomyopathy: from DNA variants to patient stratification.
Nature reviews. Cardiology - 1 Apr 2018
Ware James S, Cook Stuart A
Abstract excerpt
Dilated cardiomyopathy (DCM) affects approximately 1 in 250 individuals and is the leading indication for heart transplantation. DCM is often familial, and the most common genetic predisposition is a truncating variation in the giant sarcomeric protein, titin, which occurs in up to 15% of ambulant patients with DCM and 25% of end-stage or familial cases. In this article, we review the evidence for the role of...
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