ArticleBrain : a journal of neurology2020
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
Article in Brain : a journal of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 21 papers, 2 of them syntheses that pooled it.
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Who cites it
21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 30 citations in OpenAlex.
- Genome-wide analysis identifies susceptibility loci for heart failure and nonischemic cardiomyopathy subtype in the East Asian populations.PLoS genetics · 2025Pooled it
- Genome-wide association analysis reveals insights into the genetic architecture of right ventricular structure and function.Nature genetics · 2022Pooled it
- A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a.Human molecular genetics · 2026Article
- A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation inbioRxiv : the preprint server for biology · 2026Article
- Association of DNA methylation with hypertension and blood pressure: a 7-year longitudinal study from KORA F4/FF4.BMC medicine · 2026Article
- Genetics in Hypertrophic Cardiomyopathy: An Evolving Clinical Landscape.Cardiac failure review · 2026Review
- Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.Nature genetics · 2025Article
- Quantitative proteomics analysis reveals the pathogenesis of obstructed defecation syndrome caused by abnormal expression of dystrophin.World journal of gastroenterology · 2024Article
- Mutational and clinical spectrum of myofibrillar myopathy in one center from China.Journal of neuromuscular diseases · 2024Article
- A comprehensive atlas of pig RNA editome across 23 tissues reveals RNA editing affecting interaction mRNA-miRNAs.G3 (Bethesda, Md.) · 2024Article
- Human myofiber-enriched aging-induced lncRNA FRAIL1 promotes loss of skeletal muscle function.Aging cell · 2024Article
- Duality of the SVIL expression in bladder cancer and its correlation with immune infiltration.Scientific reports · 2023Article
- Protein Aggregates and Aggrephagy in Myopathies.International journal of molecular sciences · 2023Review
- Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow.Frontiers in cardiovascular medicine · 2023Review
- Article
- Morphological and Molecular Responses ofInternational journal of molecular sciences · 2022Article
- GSK-3β Localizes to the Cardiac Z-Disc to Maintain Length Dependent Activation.Circulation research · 2022Article
- Novel γ-sarcoglycan interactors in murine muscle membranes.Skeletal muscle · 2022Article
- Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.European journal of human genetics : EJHG · 2021Article
- Clinical, Radiographic, and Genetic Analyses in a Population-Based Cohort of Adult Spinal Deformity in the Older Population.Neurospine · 2021Article
Corrections and comments
- Erratum issued
Authors and funding
24 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The muscle specific isoform of the supervillin protein (SV2), encoded by the SVIL gene, is a large sarcolemmal myosin II- and F-actin-binding protein. Supervillin (SV2) binds and co-localizes with costameric dystrophin and binds nebulin, potentially attaching the sarcolemma to myofibrillar Z-lines. Despite its important role in muscle cell physiology suggested by various in vitro studies, there are so far no reports of any human disease caused by SVIL mutations. We here report four patients from two unrelated, consanguineous families with a childhood/adolescence onset of a myopathy associated with homozygous loss-of-function mutations in SVIL. Wide neck, anteverted shoulders and prominent trapezius muscles together with variable contractures were characteristic features. All patients showed increased levels of serum creatine kinase but no or minor muscle weakness. Mild cardiac manifestations were observed. Muscle biopsies showed complete loss of large supervillin isoforms in muscle fibres by western blot and immunohistochemical analyses. Light and electron microscopic investigations revealed a structural myopathy with numerous lobulated muscle fibres and considerable myofibrillar alterations with a coarse and irregular intermyofibrillar network. Autophagic vacuoles, as well as frequent and extensive deposits of lipoproteins, including immature lipofuscin, were observed. Several sarcolemma-associated proteins, including dystrophin and sarcoglycans, were partially mis-localized. The results demonstrate the importance of the supervillin (SV2) protein for the structural integrity of muscle fibres in humans and show that recessive loss-of-function mutations in SVIL cause a distinctive and novel myopathy.
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