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NOVEL ALPHA-ACTININ 2 MUTATIONS ARE ASSOCIATED WITH CARDIOMYOPATHY AND HYPERTROPHY IN HUMAN CARDIAC TISSUE AND IPSC-DERIVED CARDIOMYOCYTES

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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… Click to show full 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 behind how

Keywords: cardiomyopathy hypertrophy; mutations associated; novel alpha; associated cardiomyopathy; alpha actinin; actinin mutations

Journal Title: Journal of the American College of Cardiology
Year Published: 2019

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