Associated Papers
Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.
Iruzubieta P et al.
Journal of Neurology, 2025
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.
Ranta-Aho J et al.
Annals of Clinical and Translational Neurology, 2024
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Donkervoort S 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
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219
A novel frameshift ACTN2 variant causes a rare adult-onset distal myopathy with multi-minicores.
Chen L et al.
Cns Neuroscience & Therapeutics, 2021
A recurrent homozygous ACTN2 variant associated with core myopathy.
Inoue M et al.
Acta Neuropathologica, 2021
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.
Wadmore K et al.
International Journal of Molecular Sciences, 2021
Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.
Savarese M et al.
Annals of Neurology, 2019
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