ArticleActa neuropathologica2019
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).
Article in Acta neuropathologica, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 51 citations in OpenAlex.
- Biological properties of α-actinin-2 and its role and mechanisms in disease development.Frontiers in physiology · 2026Review
- De Novo ACTN2 Variant in a Chinese Neonate With Left Ventricular Non-Compaction and Metabolic Disturbances: A Rare Case Report.Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc · 2026Article
- Restrictive cardiomyopathy due to new mutation in the ACTN2 gene: a case report.European heart journal. Case reports · 2025Article
- Padua Days on Muscle and Mobility Medicine, March 25-29, 2025, Hotel Petrarca, Euganean Thermae, Italy: Program and Abstracts.European journal of translational myology · 2025Article
- Structural and functional insights into α-actinin isoforms and their implications in cardiovascular disease.The Journal of general physiology · 2025Review
- Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.Journal of neurology · 2025Article
- Methylome-proteome integration after late-life voluntary exercise training reveals regulation and target information for improved skeletal muscle health.The Journal of physiology · 2025Article
- Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.Disease models & mechanisms · 2024Review
- Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.International journal of molecular sciences · 2024Review
- Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.Annals of clinical and translational neurology · 2024Article
- Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.Genome medicine · 2024Article
- Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.Annals of clinical and translational neurology · 2024Article
- Zebrafish as a Model Organism for Studying Pathologic Mechanisms of Neurodegenerative Diseases and other Neural Disorders.Cellular and molecular neurobiology · 2023Review
- Mutation update for the ACTN2 gene.Human mutation · 2022Review
- Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome.Molecular genetics & genomic medicine · 2022Article
- Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms.Circulation. Genomic and precision medicine · 2021Article
- An Avascular Niche Created by Axitinib-Loaded PCL/Collagen Nanofibrous Membrane Stabilized Subcutaneous Chondrogenesis of Mesenchymal Stromal Cells.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2021Article
- A recurrent homozygous ACTN2 variant associated with core myopathy.Acta neuropathologica · 2021Article
- Out-of-Frame Mutations inNeurology. Genetics · 2021Article
- A novel frameshift ACTN2 variant causes a rare adult-onset distal myopathy with multi-minicores.CNS neuroscience & therapeutics · 2021Article
Corrections and comments
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Authors and funding
20 authors at 9 institutions in 2 countries.
Funding
Abstract
The identification of genes implicated in myopathies is essential for diagnosis and for revealing novel therapeutic targets. Here we characterize a novel subclass of congenital myopathy at the morphological, molecular, and functional level. Through exome sequencing, we identified de novo ACTN2 mutations, a missense and a deletion, in two unrelated patients presenting with progressive early-onset muscle weakness and respiratory involvement. Morphological and ultrastructural analyses of muscle biopsies revealed a distinctive pattern with the presence of muscle fibers containing small structured cores and jagged Z-lines. Deeper analysis of the missense mutation revealed mutant alpha-actinin-2 properly localized to the Z-line in differentiating myotubes and its level was not altered in muscle biopsy. Modelling of the disease in zebrafish and mice by exogenous expression of mutated alpha-actinin-2 recapitulated the abnormal muscle function and structure seen in the patients. Motor deficits were noted in zebrafish, and muscle force was impaired in isolated muscles from AAV-transduced mice. In both models, sarcomeric disorganization was evident, while expression of wild-type alpha-actinin-2 did not result in muscle anomalies. The murine muscles injected with mutant ACTN2 displayed cores and Z-line defects. Dominant ACTN2 mutations were previously associated with cardiomyopathies, and our data demonstrate that specific mutations in the well-known Z-line regulator alpha-actinin-2 can cause a skeletal muscle disorder.
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