Article

Damaging <i>RBM20</i> E-rich domain variants are not rescued by gene replacement

2026-07-20

Abstract excerpt

The promise of precision therapeutics in genetic cardiomyopathies relies on linking specific therapies to variant mechanisms. Missense variants in the cardiac splice regulator RBM20 cause a highly penetrant and arrhythmogenic dilated cardiomyopathy. Disease-causing variants in RBM20’s arginine-serine rich (RS) domain act via formation of toxic gain of function cytoplasmic granules, but this is not true for a small...

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Literature Corpus work: ca177763-c7c7-5ac3-b80e-6ed310206c16
DOI: 10.64898/2026.07.13.738343

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