Article
The Combined Human Genotype of Truncating TTN and RBM20 Mutations Is Associated with Severe and Early Onset of Dilated Cardiomyopathy.
Genes - 8 Jun 2021
Gaertner Anna, Bloebaum Julia, Brodehl Andreas, Klauke Baerbel, Sielemann Katharina, Kassner Astrid, Fox Henrik, Morshuis Michiel, Tiesmeier Jens, Schulz Uwe, Knoell Ralph, Gummert Jan, Milting Hendrik
Abstract excerpt
A major cause of heart failure is cardiomyopathies, with dilated cardiomyopathy (DCM) as the most common form. Over 40 genes are linked to DCM, among them TTN and RBM20. Next Generation Sequencing in clinical DCM cohorts revealed truncating variants in TTN (TTNtv), accounting for up to 25% of familial DCM cases. Mutations in the cardiac splicing factor RNA binding motif protein 20 (RBM20) are also known to be...
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