Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms.

Maléne E Lindholm David Jimenez-MoralesHan ZhuKinya SeoDavid AmarChunli ZhaoArchana Natarajan Raja Roshni Madhvani Sarah A AbramowitzCedric EspenelShirley C SuttonColleen CaleshuGerald J Berry Kara S MotonagaKyla DunnJulia Platt Euan A Ashley Matthew T Wheeler

Published in: Circulation. Genomic and precision medicine (2021)

Together, these data advance our understanding of the role of ACTN2 in the human heart and establish recessive inheritance of ACTN2 truncation as causative of disease.

Keyphrases

intellectual disability
heart failure
endothelial cells
copy number
mitochondrial dna
electronic health record
induced pluripotent stem cells
pluripotent stem cells
big data
protein protein
autism spectrum disorder
amino acid
atrial fibrillation
binding protein
gene expression
dna methylation
data analysis