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,Sven Dittmann,Andreas Brodehl,Andreas Unger,Birgit Stallmeyer,Matthias Paul,Guiscard Seebohm,Anne Kayser,Stefan Peischard,Wolfgang A Linke,Hendrik Milting,Eric Schulze-Bahr

International Journal of Cardiology（2021）

引用 12|浏览40

暂无评分

摘要

•We identified two new DES variants.•They can be classified as new pathogenic mutations•Functional data and ex-vivo analysis show desmin aggregate formation.

查看译文

关键词

Desminopathy,Familial cardiomyopathy,Desmin,Variant,Cardiac arrhythmias,Dilated cardiomyopathy

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要