Article

Recessive <i>POPDC1</i> Truncation Causes Lethal Short-QT Pattern Arrhythmogenic Cardiomyopathy with Multi-Ion Channel Remodeling and Ankyrin-G Scaffold Disruption

2026-03-10

Abstract excerpt

<h4>Aims</h4> Biallelic variants in Popeye domain containing 1 ( POPDC1 ) classically cause limb-girdle muscular dystrophy, but their impact on cardiac system remains unclear. We investigated the functional consequence of a POPDC1 frameshift variant (c.448delT), first identified in a consanguineous family with arrhythmogenic cardiomyopathy (ACM) and sudden death. <h4>Methods and results</h4> Comprehensive cli...

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Literature Corpus work: 030752e0-4788-5b89-b90b-1720fbfc3573
DOI: 10.64898/2026.03.07.710328

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Recessive <i>POPDC1</i> Truncation Causes Lethal Short-QT Pattern Arrhythmogenic Cardiomyopathy with Multi-Ion Channel Remodeling and Ankyrin-G Scaffold DisruptionDOI 10.64898/2026.03.07.710328Read

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