{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T15:38:40Z","timestamp":1790437120404,"version":"4.1.0"},"reference-count":70,"publisher":"The Company of Biologists","issue":"9","license":[{"start":{"date-parts":[[2021,2,11]],"date-time":"2021-02-11T00:00:00Z","timestamp":1613001600000},"content-version":"vor","delay-in-days":163,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["6210100686"],"award-info":[{"award-number":["6210100686"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Jesse's Journey","award":["6100100206"],"award-info":[{"award-number":["6100100206"]}]},{"name":"Solid Biosciences","award":["6910000001"],"award-info":[{"award-number":["6910000001"]}]},{"name":"SickKids\u2013University of Toronto"},{"name":"Ontario Graduate Scholarship"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,9,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>Duchenne muscular dystrophy (DMD) is a life-threatening neuromuscular disease caused by the lack of dystrophin, resulting in progressive muscle wasting and locomotor dysfunctions. By adulthood, almost all patients also develop cardiomyopathy, which is the primary cause of death in DMD. Although there has been extensive effort in creating animal models to study treatment strategies for DMD, most fail to recapitulate the complete skeletal and cardiac disease manifestations that are presented in affected patients. Here, we generated a mouse model mirroring a patient deletion mutation of exons 52-54 (Dmd \u039452-54). The Dmd \u039452-54 mutation led to the absence of dystrophin, resulting in progressive muscle deterioration with weakened muscle strength. Moreover, Dmd \u039452-54 mice present with early-onset hypertrophic cardiomyopathy, which is absent in current pre-clinical dystrophin-deficient mouse models. Therefore, Dmd \u039452-54 presents itself as an excellent pre-clinical model to evaluate the impact on skeletal and cardiac muscles for both mutation-dependent and -independent approaches.<\/jats:p>","DOI":"10.1242\/dmm.045369","type":"journal-article","created":{"date-parts":[[2020,9,21]],"date-time":"2020-09-21T19:20:27Z","timestamp":1600716027000},"source":"Crossref","is-referenced-by-count":28,"title":["A novel mouse model of Duchenne muscular dystrophy carrying a multi-exonic <i>Dmd<\/i> deletion exhibits progressive muscular dystrophy and early-onset cardiomyopathy"],"prefix":"10.1242","volume":"13","author":[{"given":"Tatianna Wai Ying","family":"Wong","sequence":"first","affiliation":[{"name":"1 Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada"},{"name":"2 Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdalla","family":"Ahmed","sequence":"additional","affiliation":[{"name":"1 Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada"},{"name":"3 Program in Translational Medicine, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grace","family":"Yang","sequence":"additional","affiliation":[{"name":"1 Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Maino","sequence":"additional","affiliation":[{"name":"1 Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada"},{"name":"2 Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sydney","family":"Steiman","sequence":"additional","affiliation":[{"name":"1 Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elzbieta","family":"Hyatt","sequence":"additional","affiliation":[{"name":"1 Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parry","family":"Chan","sequence":"additional","affiliation":[{"name":"1 Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyle","family":"Lindsay","sequence":"additional","affiliation":[{"name":"1 Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Wong","sequence":"additional","affiliation":[{"name":"1 Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane","family":"Golebiowski","sequence":"additional","affiliation":[{"name":"Solid Biosciences, Cambridge, MA 02142, USA 4"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joel","family":"Schneider","sequence":"additional","affiliation":[{"name":"Solid Biosciences, Cambridge, MA 02142, USA 4"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5355-247X","authenticated-orcid":false,"given":"Paul","family":"Delgado-Olgu\u00edn","sequence":"additional","affiliation":[{"name":"1 Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada"},{"name":"3 Program in Translational Medicine, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2132-4699","authenticated-orcid":false,"given":"Evgueni A.","family":"Ivakine","sequence":"additional","affiliation":[{"name":"1 Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada"},{"name":"5 Department of Physiology, The University of Toronto, Toronto, ON M5S 1A8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2673-696X","authenticated-orcid":false,"given":"Ronald D.","family":"Cohn","sequence":"additional","affiliation":[{"name":"1 Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada"},{"name":"2 Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada"},{"name":"6 Department of Pediatrics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada"},{"name":"7 Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2020,9,21]]},"reference":[{"key":"2024061302484145900_DMM045369C1","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1002\/humu.20918","article-title":"Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations","volume":"30","author":"Aartsma-Rus","year":"2009","journal-title":"Hum. 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