ArticleHuman molecular genetics2018
Bi-allelic mutations in MYL1 cause a severe congenital myopathy.
Article in Human molecular genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 48 citations in OpenAlex.
- CASZ1 regulates the maturation of outer hair cells and is required for hearing in mice.iScience · 2026Article
- Myosin light chain proteins cooperatively promote sarcomere growth in fast-twitch muscle.Nature communications · 2026Article
- ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods.Neuropathology and applied neurobiology · 2026Article
- Temporal transcriptomic profiling of human three-dimensional neuromuscular co-cultures.Biology open · 2025Article
- Transcriptome Analysis of Muscle Tissue from Three Anatomical Locations in Male and Female Kazakh Horses.Biology · 2025Article
- Peptidomic analysis of CSF reveals new biomarker candidates for amyotrophic lateral sclerosis.EMBO molecular medicine · 2025Article
- MYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological Insights.Neuropathology and applied neurobiology · 2025Article
- Downregulated MYL1 Emerges as a Promising Diagnostic Biomarker for Rheumatoid Arthritis.Journal of inflammation research · 2025Article
- Gene regulatory network analysis identifies MYL1, MDH2, GLS, and TRIM28 as the principal proteins in the response of mesenchymal stem cells to MgComputational and structural biotechnology journal · 2024Article
- Navigating Complexity in Postural Orthostatic Tachycardia Syndrome.Biomedicines · 2024Review
- Transcriptome Data Revealed the circRNA-miRNA-mRNA Regulatory Network during the Proliferation and Differentiation of Myoblasts in Shitou Goose.Animals : an open access journal from MDPI · 2024Article
- Differential analysis of ubiquitin-proteomics in skeletal muscle of Duroc pigs and Tibetan fragrant pigs.Frontiers in veterinary science · 2024Article
- Circ2388 regulates myogenesis and muscle regeneration.Cell and tissue research · 2023Article
- Eggshell membrane modulates gut microbiota to prevent murine pre-cachexia through suppression of T helper cell differentiation.Journal of cachexia, sarcopenia and muscle · 2022Article
- MYL9 deficiency is neonatal lethal in mice due to abnormalities in the lung and the muscularis propria of the bladder and intestine.PloS one · 2022Article
- Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.Journal of medical genetics · 2021Article
- Reorganization of chromatin architecture during prenatal development of porcine skeletal muscle.DNA research : an international journal for rapid publication of reports on genes and genomes · 2021Article
- A ceRNA-associated risk model predicts the poor prognosis for head and neck squamous cell carcinoma patients.Scientific reports · 2021Article
- Circular RNA circMYL1 Inhibit Proliferation and Promote Differentiation of Myoblasts by Sponging miR-2400.Cells · 2021Article
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Authors and funding
20 authors at 6 institutions in 5 countries.
Funding
Abstract
Congenital myopathies are typically characterised by early onset hypotonia, weakness and hallmark features on biopsy. Despite the rapid pace of gene discovery, ∼50% of patients with a congenital myopathy remain without a genetic diagnosis following screening of known disease genes. We performed exome sequencing on two consanguineous probands diagnosed with a congenital myopathy and muscle biopsy showing selective atrophy/hypotrophy or absence of type II myofibres. We identified variants in the gene (MYL1) encoding the skeletal muscle fast-twitch specific myosin essential light chain (ELC) in both probands. A homozygous essential splice acceptor variant (c.479-2A > G, predicted to result in skipping of exon 5 was identified in Proband 1, and a homozygous missense substitution (c.488T>G, p.(Met163Arg)) was identified in Proband 2. Protein modelling of the p.(Met163Arg) substitution predicted it might impede intermolecular interactions that facilitate binding to the IQ domain of myosin heavy chain, thus likely impacting on the structure and functioning of the myosin motor. MYL1 was markedly reduced in skeletal muscle from both probands, suggesting that the missense substitution likely results in an unstable protein. Knock down of myl1 in zebrafish resulted in abnormal morphology, disrupted muscle structure and impaired touch-evoked escape responses, thus confirming that skeletal muscle fast-twitch specific myosin ELC is critical for myofibre development and function. Our data implicate MYL1 as a crucial protein for adequate skeletal muscle function and that MYL1 deficiency is associated with severe congenital myopathy.
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