Article
RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling.
Circulation - 25 Sept 2018
van den Hoogenhof Maarten M G, Beqqali Abdelaziz, Amin Ahmad S, van der Made Ingeborg, Aufiero Simona, Khan Mohsin A F, Schumacher Cees A, Jansweijer Joeri A, van Spaendonck-Zwarts Karin Y, Remme Carol Ann, Backs Johannes, Verkerk Arie O, Baartscheer Antonius, Pinto Yigal M, Creemers Esther E
Abstract excerpt
BACKGROUND: Mutations in RBM20 (RNA-binding motif protein 20) cause a clinically aggressive form of dilated cardiomyopathy, with an increased risk of malignant ventricular arrhythmias. RBM20 is a splicing factor that targets multiple pivotal cardiac genes, such as Titin (TTN) and CAMK2D (calcium/calmodulin-dependent kinase II delta). Aberrant TTN splicing is thought to be the main determinant of RBM20-induced...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.