Mono- and bi-allelic protein truncating variants in alpha-actinin 2 cause cardiomyopathy through distinct mechanisms
Maléne E. Lindholm, David Jimenez‐Morales, Han Zhu, Kinya Seo, David Amar, Chunli Zhao, Archana Natarajan Raja, Roshni Madhvani, Sarah Abramowitz, Cédric Espenel, Shirley C. Sutton, Colleen A. Caleshu, Gerald J. Berry, Kara S. Motonaga, Kyla E. Dunn, , Matthew Thomas Wheeler
The paper investigates how mono- and bi-allelic ACTN2 mutations cause cardiomyopathy through distinct mechanisms using patient-derived iPSC-cardiomyocytes and CRISPR-Cas9 editing.
Circulation Genomic and Precision Medicine · Nov 22, 2021Peer-reviewedGenetics