Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.
Johanna Ranta-AhoKevin J FelicePer Harald JonsonJaakko SarparantaJohanna PalmioGiorgio TascaMario SabatelliCédric YvorelInes HarzallahRenaud TouraineLynn PaisChristina A Austin-TseVijay GaneshMelanie C O'LearyHeidi L RehmMichael K HehirSub SubramonyQian WuBjarne UddMarco SavaresePublished in: medRxiv : the preprint server for health sciences (2024)
should be classified as pathogenic. However, this mechanism is likely elicited by only a limited number of variants. Alternative functional characterization methods should be explored to further investigate other molecular mechanisms underlying actininopathies.