ArticleThe Journal of clinical investigation2022
Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome.
Article in The Journal of clinical investigation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 28 citations in OpenAlex.
- Myomaker and Myomixer are required for craniofacial myoblast fusion in zebrafish.Developmental dynamics : an official publication of the American Association of Anatomists · 2026Article
- CHAMP1 is an essential regulator for human myoblast fusion and muscle development.Nature communications · 2026Article
- Development of a split-toxin CRISPR screening platform to systematically identify regulators of human myoblast fusion.Nature communications · 2026Article
- Dynamic expression and differential requirement of the myocyte fusogen Myomixer during distinct myogenic episodes in the zebrafish.Biology open · 2025Article
- Article
- Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism.European journal of human genetics : EJHG · 2025Article
- Cell-cell fusion: To lose one life and begin another.BioEssays : news and reviews in molecular, cellular and developmental biology · 2025Review
- Ectopic expression of Myomaker and Myomixer in slow muscle cells induces slow muscle fusion and myofiber death.Journal of genetics and genomics = Yi chuan xue bao · 2024Article
- Review
- Aberrant myonuclear domains and impaired myofiber contractility despite marked hypertrophy in MYMK-related, Carey-Fineman-Ziter Syndrome.Acta neuropathologica communications · 2024Article
- An Inner Mitochondrial Membrane Microprotein from the SLC35A4 Upstream ORF Regulates Cellular Metabolism.Journal of molecular biology · 2024Article
- Molecular regulation of myocyte fusion.Current topics in developmental biology · 2024Review
- Biochemistry and Protein Interactions of the CYREN Microprotein.Biochemistry · 2023Article
- Hexavalent chromium inhibits myogenic differentiation and induces myotube atrophy.Toxicology and applied pharmacology · 2023Article
- Biasing the conformation of ELMO2 reveals that myoblast fusion can be exploited to improve muscle regeneration.Nature communications · 2022Article
- Loss of Myomixer Results in Defective Myoblast Fusion, Impaired Muscle Growth, and Severe Myopathy in Zebrafish.Marine biotechnology (New York, N.Y.) · 2022Article
- Phosphatidylserine orchestrates Myomerger membrane insertions to drive myoblast fusion.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
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Authors and funding
17 authors at 2 institutions in 2 countries.
Funding
Abstract
Skeletal muscle fibers contain hundreds of nuclei, which increase the overall transcriptional activity of the tissue and perform specialized functions. Multinucleation occurs through myoblast fusion, mediated by the muscle fusogens Myomaker (MYMK) and Myomixer (MYMX). We describe a human pedigree harboring a recessive truncating variant of the MYMX gene that eliminates an evolutionarily conserved extracellular hydrophobic domain of MYMX, thereby impairing fusogenic activity. Homozygosity of this human variant resulted in a spectrum of abnormalities that mimicked the clinical presentation of Carey-Fineman-Ziter syndrome (CFZS), caused by hypomorphic MYMK variants. Myoblasts generated from patient-derived induced pluripotent stem cells displayed defective fusion, and mice bearing the human MYMX variant died perinatally due to muscle abnormalities. In vitro assays showed that the human MYMX variant conferred minimal cell-cell fusogenicity, which could be restored with CRISPR/Cas9-mediated base editing, thus providing therapeutic potential for this disorder. Our findings identify MYMX as a recessive, monogenic human disease gene involved in CFZS, and provide new insights into the contribution of myoblast fusion to neuromuscular diseases.
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Registered trials
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