Insights into the role of a cardiomyopathy-causing genetic variant in ACTN2

Insights into the role of a cardiomyopathy-causing genetic variant in ACTN2

Pathogenic variants in ACTN2, coding for alpha-actinin 2, are known to be rare causes of Hyper-trophic Cardiomyopathy. However, little is known about the underlying disease mechanisms. Adult heterozygous mice carrying the Actn2 p.Met228Thr variant were phenotyped by echocar-diography. For homozygous...

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Bibliographic Details
Main Authors: Broadway-Stringer, S, Jiang, H, Wadmore, K, Hooper, C, Douglas, G, Steeples, V, Azad, A, Singer, E, Rayet, J, Galatik, F, Ehler, E, Bennett, P, Kalisch-Smith, J, Sparrow, D, Davies, B, Djinovic-Carugo, K, Gautel, M, Watkins, H, Gehmlich, K
Format: Journal article
Language:English
Published: MDPI 2023

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