ArticleCNS neuroscience & therapeutics2021
A novel frameshift ACTN2 variant causes a rare adult-onset distal myopathy with multi-minicores.
Article in CNS neuroscience & therapeutics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 13 citations in OpenAlex.
- Biological properties of α-actinin-2 and its role and mechanisms in disease development.Frontiers in physiology · 2026Review
- Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.Journal of neurology · 2025Article
- Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.Annals of clinical and translational neurology · 2024Article
- Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.Annals of clinical and translational neurology · 2024Article
- Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy.International journal of molecular sciences · 2023Article
- Mutation update for the ACTN2 gene.Human mutation · 2022Review
- A novel frameshift ACTN2 variant causes a rare adult-onset distal myopathy with multi-minicores.CNS neuroscience & therapeutics · 2021Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
introductionDistal myopathies are a group of rare muscle disorders characterized by selective or predominant weakness in the feet and/or hands. In 2019, ACTN2 gene was firstly identified to be a cause of a new adult-onset distal muscular dystrophy calling actininopathy and another distinctly different myopathy, named multiple structured core disease (MsCD). Thus, the various phenotypes and limited mutations in ACTN2-related myopathy make the genotype-phenotype correlation hard to understand.
aimsTo investigate the clinical features and histological findings in a Chinese family with distal myopathy. Whole exome sequencing and several functional studies were performed to explore the pathogenesis of the disease.
resultsWe firstly identified a novel frameshift variant (c.2504delT, p.Phe835Serfs*66) within ACTN2 in a family including three patients. The patients exhibited adult-onset distal myopathy with multi-minicores, which, interestingly, was more like a combination of MsCD and actininopathy. Moreover, functional analysis using muscle samples revealed that the variant significantly increased the expression level of α-actinin-2 and resulted in abnormal Z-line organization of muscle fiber. Vitro studies suggested aggregate formations might be involved in the pathogenesis of the disease.
conclusionOur results expanded the phenotypes of ACTN2-related myopathy and provided helpful information to clarify the molecular mechanisms.
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