ArticleNeurogenetics2012
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
Article in Neurogenetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 82 citations in OpenAlex.
- Transcriptomic and Metabolomic Insights into Growth Heterosis ofInternational journal of molecular sciences · 2026Article
- Large phenotypic variability with severe respiratory involvement inJournal of neuromuscular diseases · 2026Article
- Deficiency of muscular dystrophy-related gene JAG2 causes NOTCH signaling dysfunction in muscle stem cells.The Journal of clinical investigation · 2026Article
- Comparative Analysis of the Transcriptome of the Chicken Breast Muscle at Different Developmental Stages.Animals : an open access journal from MDPI · 2026Article
- Article
- Genetic disruption of satellite cell function underlying congenital myopathies.Journal of human genetics · 2025Review
- ProteinMolecules (Basel, Switzerland) · 2025Review
- Myotube Guidance: Shaping up the Musculoskeletal System.Journal of developmental biology · 2024Review
- Cellular and molecular alterations to muscles and neuromuscular synapses in a mouse model of MEGF10-related myopathy.Skeletal muscle · 2024Article
- Disease modeling and gene correction of LGMDR21 iPSCs elucidates the role of POGLUT1 in skeletal muscle maintenance, regeneration, and the satellite cell niche.Molecular therapy. Nucleic acids · 2023Article
- The Notch signaling pathway in skeletal muscle health and disease.Muscle & nerve · 2022Review
- Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.The Journal of general physiology · 2022Review
- The Notch signaling network in muscle stem cells during development, homeostasis, and disease.Skeletal muscle · 2022Review
- Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.Acta neuropathologica communications · 2022Article
- Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies.Experimental cell research · 2022Article
- Congenital myopathy associated with a novel mutation inActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2022Article
- Phenotypic Variability ofGenes · 2021Article
- Insights into the ligand binding specificity of SREC-II (scavenger receptor expressed by endothelial cells).FEBS open bio · 2021Article
- Small heat-shock protein HSPB3 promotes myogenesis by regulating the lamin B receptor.Cell death & disease · 2021Article
- A form of muscular dystrophy associated with pathogenic variants in JAG2.American journal of human genetics · 2021Article
Corrections and comments
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Authors and funding
18 authors at 6 institutions in 3 countries.
Funding
Abstract
We ascertained a nuclear family in which three of four siblings were affected with an unclassified autosomal recessive myopathy characterized by severe weakness, respiratory impairment, scoliosis, joint contractures, and an unusual combination of dystrophic and myopathic features on muscle biopsy. Whole genome sequence from one affected subject was filtered using linkage data and variant databases. A single gene, MEGF10, contained nonsynonymous mutations that co-segregated with the phenotype. Affected subjects were compound heterozygous for missense mutations c.976T > C (p.C326R) and c.2320T > C (p.C774R). Screening the MEGF10 open reading frame in 190 patients with genetically unexplained myopathies revealed a heterozygous mutation, c.211C > T (p.R71W), in one additional subject with a similar clinical and histological presentation as the discovery family. All three mutations were absent from at least 645 genotyped unaffected control subjects. MEGF10 contains 17 atypical epidermal growth factor-like domains, each of which contains eight cysteine residues that likely form disulfide bonds. Both the p.C326R and p.C774R mutations alter one of these residues, which are completely conserved in vertebrates. Previous work showed that murine Megf10 is required for preserving the undifferentiated, proliferative potential of satellite cells, myogenic precursors that regenerate skeletal muscle in response to injury or disease. Here, knockdown of megf10 in zebrafish by four different morpholinos resulted in abnormal phenotypes including unhatched eggs, curved tails, impaired motility, and disorganized muscle tissue, corroborating the pathogenicity of the human mutations. Our data establish the importance of MEGF10 in human skeletal muscle and suggest satellite cell dysfunction as a novel myopathic mechanism.
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