Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.
Ranta-Aho J, Felice KJ, Jonson PH, Sarparanta J, Palmio J, Tasca G, Sabatelli M, Yvorel C, Harzallah I, Touraine R, Pais L, Austin-Tse CA, Ganesh V, O'Leary MC, Rehm HL, Hehir MK, Subramony S, Wu Q, Udd B, Savarese M.
Ranta-Aho J, et al. Among authors: hehir mk.
medRxiv [Preprint]. 2024 Jan 17:2024.01.17.23298671. doi: 10.1101/2024.01.17.23298671.
medRxiv. 2024.
PMID: 38293186
Free PMC article.
Preprint.