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Phenotypic variability of filamin C-related cardiomyopathy: Insights from a novel Dutch founder variant.
Schoonvelde SAC, Ruijmbeek CWB, Hirsch A, van Slegtenhorst MA, Wessels MW, von der Thüsen JH, Baas AF, Stroeks SLVM, Verdonschot JAJ, van der Zwaag PA, Verhagen JMA, Michels M. Schoonvelde SAC, et al. Among authors: ruijmbeek cwb. Heart Rhythm. 2023 Nov;20(11):1512-1521. doi: 10.1016/j.hrthm.2023.08.003. Epub 2023 Aug 9. Heart Rhythm. 2023. PMID: 37562486
Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization.
Ruijmbeek CW, Housley F, Idrees H, Housley MP, Pestel J, Keller L, Lai JK, der Linde HCV, Willemsen R, Piesker J, Al-Hassnan ZN, Almesned A, Dalinghaus M, den Bersselaar LMV, van Slegtenhorst MA, Tessadori F, Bakkers J, van Ham TJ, Stainier DY, Verhagen JM, Reischauer S. Ruijmbeek CW, et al. JCI Insight. 2023 Sep 8;8(17):e168247. doi: 10.1172/jci.insight.168247. JCI Insight. 2023. PMID: 37561591 Free PMC article.