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A negative screen for mutations in calstabin 1 and 2 genes in patients with dilated cardiomyopathy.
DG Biagi, JG Mill, AJ Mansur, JE Krieger... - Journal of Negative ..., 2012 - 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 ...
We tested the hypothesis that calstabins mutations may cause dilated cardiomyopathy in humans screening 186 patients with idiopathic dilated cardiomyopathy for genetic alterations in calstabins 1 and 2 genes (FKBP12 and FKBP12.6). No missense variant was found. Five no-coding variations were found but not related to the disease.
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A negative screen for mutations in calstabin 1 and 2 genes in patients with dilated cardiomyopathy. |
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