{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T18:22:52Z","timestamp":1772994172146,"version":"3.50.1"},"reference-count":36,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,9,18]],"date-time":"2024-09-18T00:00:00Z","timestamp":1726617600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2024,9,18]],"date-time":"2024-09-18T00:00:00Z","timestamp":1726617600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction\/Aims<\/jats:title>\n                    <jats:p>Studies have demonstrated that certain genotypes in Duchenne muscular dystrophy (DMD) have milder or more severe phenotypes. These studies included individuals treated and not treated with corticosteroids and multiple sites with potentially varying standards of care. We aimed to assess genotype\u2013phenotype correlations for age at loss of ambulation (LoA) in a large cohort of individuals with DMD treated with corticosteroids at one center.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>In this retrospective review of medical records, encounters were included for individuals diagnosed with DMD if prescribed corticosteroids, defined as daily deflazacort or prednisone or high\u2010dose weekend prednisone, for 12 consecutive months. Encounters were excluded if the participants were taking disease\u2010modifying therapy. Data were analyzed using survival analysis for LoA and Fisher's exact tests to assess the percentage of late ambulatory (&gt;14\u2009years old) individuals for selected genotypes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Overall, 3948 encounters from 555 individuals were included. Survival analysis showed later age at LoA for exon 44 skip amenable (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u2009.004), deletion exons 3\u20137 (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u2009.001) and duplication exon 2 (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u2009.043) cohorts and earlier age at LoA for the exon 51 skip amenable cohort (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u2009.001) when compared with the rest of the cohort. Individuals with deletions of exons 3\u20137 had significantly more late ambulatory individuals than other cohorts (75%), while those with exon 51 skip amenable deletions had significantly fewer (11.9%) compared with other cohorts.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>This confirms previous observations of genotype\u2013phenotype correlations in DMD and enhances information for trial design and clinical management.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mus.28255","type":"journal-article","created":{"date-parts":[[2024,9,18]],"date-time":"2024-09-18T08:21:00Z","timestamp":1726647660000},"page":"1053-1061","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["The impact of genotype on age at loss of ambulation in individuals with Duchenne muscular dystrophy treated with corticosteroids: A single\u2010center study of 555 patients"],"prefix":"10.1002","volume":"70","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1857-2029","authenticated-orcid":false,"given":"Alexander","family":"Zygmunt","sequence":"first","affiliation":[{"name":"Division of Neurology, Department of Pediatrics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brenda","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Massachusetts Chan Medical School  Worcester Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Moon","sequence":"additional","affiliation":[{"name":"Division of Neurology Helen DeVos Children's Hospital  Grand Rapids Michigan USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Horn","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Rathbun","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joshua","family":"Lambert","sequence":"additional","affiliation":[{"name":"Department of Psychology University of Alabama  Tuscaloosa Alabama USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean","family":"Bange","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irina","family":"Rybalsky","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"Reebals","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cuixia","family":"Tian","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio 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