Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype.
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DOI: 10.1016/j.ijcard.2019.09.048
Abstract: BACKGROUND Pathogenic variants in the filamin C (FLNC) gene are associated with inherited cardiomyopathies including dilated cardiomyopathy with an arrhythmogenic phenotype. We evaluated FLNC variants in arrhythmogenic cardiomyopathy (ACM) and investigated the disease mechanism at… read more here.
Keywords: phenotype; flnc variants; arrhythmogenic cardiomyopathy; filamin variants ... See more keywords