Article
A missense mutation in the RSRSP stretch of Rbm20 causes dilated cardiomyopathy and atrial fibrillation in mice.
Scientific reports - 27 Oct 2020
Ihara Kensuke, Sasano Tetsuo, Hiraoka Yuichi, Togo-Ohno Marina, Soejima Yurie, Sawabe Motoji, Tsuchiya Megumi, Ogawa Hidesato, Furukawa Tetsushi, Kuroyanagi Hidehito
Abstract excerpt
Dilated cardiomyopathy (DCM) is a fatal heart disease characterized by left ventricular dilatation and cardiac dysfunction. Recent genetic studies on DCM have identified causative mutations in over 60 genes, including RBM20, which encodes a regulator of heart-specific splicing. DCM patients with RBM20 mutations have been reported to present with more severe cardiac phenotypes, including impaired cardiac function,...
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