Functional characterization of novel alpha-helical rod domain desmin (DES) pathogenic variants associated with dilated cardiomyopathy, atrioventricular block and a risk for sudden cardiac death
Björn Fischer‐Zirnsak, Sven Dittmann, Andreas Brodehl, Andreas Unger, Birgit Stallmeyer, Matthias Paul, Guiscard Seebohm, Anne Kayser, Stefan Peischard, Wolfgang A. Linke, Hendrik Milting, Eric Schulze‐Bahr
Topics & Concepts
DesminMissense mutationMedicineDilated cardiomyopathyCardiomyopathyMutationAtrioventricular blockMolecular biologyGeneticsGenePathologyBiologyHeart failureInternal medicineImmunohistochemistryVimentinSkin and Cellular Biology ResearchNuclear Structure and FunctionDermatological and Skeletal Disorders