Associated Papers
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.
Ranta-Aho J et al.
Annals of Clinical and Translational Neurology, 2024
Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.
Ranta-Aho J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Mutation update for the ACTN2 gene.
Ranta-Aho J et al.
Human Mutation, 2022
36116040 (PubMed )
Supplement: HUMU-43-1745-s001.xlsx › Sheet1
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