ACTN2 variant associated with a cardiac phenotype suggestive of left-dominant arrhythmogenic cardiomyopathy

摘要

Genetic investigations. Sanger sequence confirmation of the variant c.1418A>G (p.Tyr473Cys). Family pedigree. indicate deceased subject; indicates proband; indicate heterozygous carriers of p.Tyr473Cys in and affected by left-dominant arrhythmogenic cardiomyopathy.