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Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy

18 Feb 2022

Abstract excerpt

RBM20 is a disease-causing gene associated with dilated cardiomyopathy (DCM). The proband presented with the dilated phase of hypertrophic cardiomyopathy (HCM), and the mother also suffered from HCM. A missense variant of RBM20, p.Arg636His, previously reported as pathogenic in several families with DCM, was found in both the proband and the mother. Therefore, RBM20 p.Arg636His could be the causative variant for...

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PMID: 35181673
DOI: 10.1038/s41439-022-00183-z

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