Article
A negative screen for mutations in calstabin 1 and 2 genes in patients with dilated cardiomyopathy.
Journal of negative results in biomedicine - 11 Jan 2012
Biagi Diogo G, Mill José G, Mansur Alfredo J, Krieger José E, Pereira Alexandre C
Abstract excerpt
BACKGROUND: Calstabins 1 and 2 bind to Ryanodine receptors regulating muscle excitation-contraction coupling. Mutations in Ryanodine receptors affecting their interaction with calstabins lead to different cardiac pathologies. Animal studies suggest the involvement of calstabins with dilated cardiomyopathy. RESULTS: We tested the hypothesis that calstabins mutations may cause dilated cardiomyopathy in humans...
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