Tracing the pathogenic PLN p.(Arg14del) variant across the globe; more than just a local curiosity.

doi:10.1007/s12265-026-10792-6

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Article

Tracing the pathogenic PLN p.(Arg14del) variant across the globe; more than just a local curiosity.

Journal of cardiovascular translational research - 25 Jun 2026

van Drie Esmée, van Lint Freyja H M, Zwart Rob, Wang Jie, Chen Yucheng, Postma Alex V, Elferink Martin G, van Steenbrugge Joris J M, van der Zwaag Paul A, Jongbloed Jan D H, Dooijes Dennis, van der Heide Myrthe Y C, Houweling Arjan C, Haugaa Kristina H, Leren Ida Skrinde, Kostareva Anna, Milting Hendrik, Nguyen Thuy Vy, Ho Huynh Thuy Duong, Chevalier Philippe, Delinière Antoine, Gimeno-Blanes Juan R, Sabater-Molina María, Barriales-Villa Roberto, Mazzanti Andrea, Memmi Mirella, Kuramoto Yuki, Tabata Tomoka, Wilde Arthur A M, van Spaendonck-Zwarts Karin Y, van Tintelen J Peter

Abstract excerpt

Studying the global distribution of the pathogenic variant c.40_42delAGA;p.(Arg14del) in the phospholamban (PLN) gene is highly important for raising awareness among healthcare providers and may help uncover factors contributing to variability in the development of associated cardiomyopathy phenotypes. PLN p.(Arg14del)-positive individuals were identified through a PubMed literature search, our clinical and...

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PMID: 42350697
DOI: 10.1007/s12265-026-10792-6
PMCID: PMC13303328

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Tracing the pathogenic PLN p.(Arg14del) variant across the globe; more than just a local curiosity.PMID 42350697Read ↗

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