The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unreponsive to standard heart failure therapy.

doi:10.1038/s41598-020-66656-9

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Article

The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unreponsive to standard heart failure therapy.

Scientific reports - 17 Jun 2020

Eijgenraam Tim R, Boukens Bastiaan J, Boogerd Cornelis J, Schouten E Marloes, van de Kolk Cees W A, Stege Nienke M, Te Rijdt Wouter P, Hoorntje Edgar T, van der Zwaag Paul A, van Rooij Eva, van Tintelen J Peter, van den Berg Maarten P, van der Meer Peter, van der Velden Jolanda, Silljé Herman H W, de Boer Rudolf A

Abstract excerpt

Phospholamban (PLN) plays a role in cardiomyocyte calcium handling as primary inhibitor of sarco/endoplasmic reticulum Ca2+-ATPase (SERCA). The p.(Arg14del) pathogenic variant in the PLN gene results in a high risk of developing dilated or arrhythmogenic cardiomyopathy with heart failure. There is no established treatment other than standard heart failure therapy or heart transplantation. In this study, we...

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Identifiers

PMID: 32555305
DOI: 10.1038/s41598-020-66656-9
PMCID: PMC7300032

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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