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Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy

27 Sept 2018

Abstract excerpt

Restrictive cardiomyopathy (RCM) is a rare and distinct form of cardiomyopathy characterized by normal ventricular chamber dimensions, normal myocardial wall thickness, and preserved systolic function. The abnormal myocardium, however, demonstrates impaired relaxation. To date, dominant variants causing RCM have been reported in a small number of sarcomeric or cytoskeletal genes, but the genetic causes in a...

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PMID: 30260051
DOI: 10.1002/humu.23661

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Related research

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Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathyPMID 30260051Read ↗

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Novel combination of FLNC (c.5707G>A; p. Glu1903Lys) and BAG3 (c.610G>A; p.Gly204Arg) genetic variant expressing restrictive cardiomyopathy phenotype in an adolescent girl.Semantic proximity Read ↗

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