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Cardiac α-Actin ( ACTC1 ) Gene Mutation Causes Atrial-Septal Defects Associated With Late-Onset Dilated Cardiomyopathy

1 Aug 2019

Abstract excerpt

BACKGROUND: Familial atrial septal defect (ASD) has previously been attributed primarily to mutations in cardiac transcription factors. Here, we report a large, multi-generational family (78 members) with ASD combined with a late-onset dilated cardiomyopathy and further characterize the consequences of mutant α-actin. METHODS: We combined a genome-wide linkage analysis with cell biology, microscopy, and molecular...

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PMID: 31430208
DOI: 10.1161/circgen.119.002491

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