{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"submitter":["Sipple MT"],"funding":["NIDCR NIH HHS","NIAMS NIH HHS","NIGMS NIH HHS"],"pubmed_abstract":["A cardinal sign of myotonic dystrophy type 1 (DM1) is slow of muscle relaxation after voluntary contraction known as myotonia. Myotonia results from mis-regulated splicing of chloride channel 1 (ClC-1), leading to loss of channel function and runs of involuntary action potentials in muscle fibers. Heralding the onset of weakness, myotonia is often the first symptom of DM1, and raising the possibility that muscle hyperexcitability promotes the subsequent development of myopathy. We used genome editing to test this possibility by deleting the alternatively spliced and frameshift inducing ClC-1 exon 7a (E7a) in the Mbnl1 knockout model of DM1. Although several ClC-1 exons exhibit mis-regulated splicing in DM1, deletion of this single cryptic exon was sufficient to restore ClC-1 function and e"],"journal":["bioRxiv : the preprint server for biology"],"pagination":["2025.09.19.677400"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12458930"],"repository":["biostudies-literature"],"pubmed_title":["Elimination of myotonia improves myopathy in a muscleblind knockout model of myotonic dystrophy."],"pmcid":["PMC12458930"],"funding_grant_id":["R01 AR079424","T90 DE021985","T32 GM135134","F31 AR082284"],"pubmed_authors":["Todorow V","Hamazaki SA","Heil CS","Thornton CA","Lupia KM","Lueck JD","Meinke P","Sipple MT","Cisco LA"],"additional_accession":[]},"is_claimable":false,"name":"Elimination of myotonia improves myopathy in a muscleblind knockout model of myotonic dystrophy.","description":"A cardinal sign of myotonic dystrophy type 1 (DM1) is slow of muscle relaxation after voluntary contraction known as myotonia. Myotonia results from mis-regulated splicing of chloride channel 1 (ClC-1), leading to loss of channel function and runs of involuntary action potentials in muscle fibers. Heralding the onset of weakness, myotonia is often the first symptom of DM1, and raising the possibility that muscle hyperexcitability promotes the subsequent development of myopathy. We used genome editing to test this possibility by deleting the alternatively spliced and frameshift inducing ClC-1 exon 7a (E7a) in the Mbnl1 knockout model of DM1. Although several ClC-1 exons exhibit mis-regulated splicing in DM1, deletion of this single cryptic exon was sufficient to restore ClC-1 function and e","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Sep","modification":"2026-05-03T03:18:15.61Z","creation":"2026-05-03T03:11:50.743Z"},"accession":"S-EPMC12458930","cross_references":{"pubmed":["41000779"],"doi":["10.1101/2025.09.19.677400"]}}