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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.
Fischer B, Dittmann S, Brodehl A, Unger A, Stallmeyer B, Paul M, Seebohm G, Kayser A, Peischard S, Linke WA, Milting H, Schulze-Bahr E. Fischer B, et al. Among authors: paul m. Int J Cardiol. 2021 Apr 15;329:167-174. doi: 10.1016/j.ijcard.2020.12.050. Epub 2020 Dec 26. Int J Cardiol. 2021. PMID: 33373648
A heterozygous deletion mutation in the cardiac sodium channel gene SCN5A with loss- and gain-of-function characteristics manifests as isolated conduction disease, without signs of Brugada or long QT syndrome.
Zumhagen S, Veldkamp MW, Stallmeyer B, Baartscheer A, Eckardt L, Paul M, Remme CA, Bhuiyan ZA, Bezzina CR, Schulze-Bahr E. Zumhagen S, et al. Among authors: paul m. PLoS One. 2013 Jun 28;8(6):e67963. doi: 10.1371/journal.pone.0067963. Print 2013. PLoS One. 2013. PMID: 23840796 Free PMC article.
3,679 results