Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype.
Sign Up to like & getrecommendations! Published in 2019 at "International journal of cardiology"
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
Clinical exome sequencing revealed that FLNC variants contribute to the early diagnosis of cardiomyopathies in infant patients.
Sign Up to like & getrecommendations! Published in 2020 at "Translational pediatrics"
DOI: 10.21037/tp.2019.12.02
Abstract: Background FLNC encodes actin-binding protein and is mainly concentrated in skeletal and cardiac muscle. Mutations in FLNC were found in cardiomyopathies. To date, studies on FLNC-cardiomyopathies have mainly been reported in adults. There are limited… read more here.
Keywords: exome sequencing; flnc variants; infant patients; early diagnosis ... See more keywords