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Article

Phenotypic and Genetic Factors Associated with Absence of Cardiomyopathy Symptoms in PLN:c.40_42delAGA Carriers.

Journal of cardiovascular translational research - 1 Dec 2023

Lopera-Maya Esteban A, Li Shuang, de Brouwer Remco, Nolte Ilja M, van Breen Justin, Jongbloed Jan D H, Swertz Morris A, Snieder Harold, Franke Lude, Wijmenga Cisca, de Boer Rudolf A, Deelen Patrick, van der Zwaag Paul A, Sanna Serena

Abstract excerpt

The c.40_42delAGA variant in the phospholamban gene (PLN) has been associated with dilated and arrhythmogenic cardiomyopathy, with up to 70% of carriers experiencing a major cardiac event by age 70. However, there are carriers who remain asymptomatic at older ages. To understand the mechanisms behind this incomplete penetrance, we evaluated potential phenotypic and genetic modifiers in 74 PLN:c.40_42delAGA...

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Identifiers

PMID: 36622581
DOI: 10.1007/s12265-022-10347-5
PMCID: PMC10721704

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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