NOVEL ALPHA-ACTININ 2 MUTATIONS ARE ASSOCIATED WITH CARDIOMYOPATHY AND HYPERTROPHY IN HUMAN CARDIAC TISSUE AND IPSC-DERIVED CARDIOMYOCYTES
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DOI: 10.1016/s0735-1097(19)31634-1
Abstract: In cardiac and skeletal muscle, alpha-actinins are critical cytoskeletal proteins that anchor actin filaments within the sarcomere. Mutations in ACTN2 have been associated with cardiac abnormalities, including arrhythmias, hypertrophic and dilated cardiomyopathies. However, the mechanisms… read more here.
Keywords: cardiomyopathy hypertrophy; mutations associated; novel alpha; associated cardiomyopathy ... See more keywords