{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T21:39:54Z","timestamp":1780781994532,"version":"3.54.1"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,10,27]],"date-time":"2021-10-27T00:00:00Z","timestamp":1635292800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2022,1]]},"abstract":"Abstract<\/jats:title>Introduction\/Aims<\/jats:title>Mutations amenable to skipping of specific exons have been associated with different motor progression in Duchenne muscular dystrophy (DMD). Less is known about their association with long\u2010term respiratory function. In this study we investigated the features of respiratory progression in four DMD genotypes relevant in ongoing exon\u2010skipping therapeutic strategies.<\/jats:p><\/jats:sec>Methods<\/jats:title>This was a retrospective longitudinal study including DMD children followed by the UK NorthStar Network and international AFM Network centers (May 2003 to October 2020). We included boys amenable to skip exons 44, 45, 51, or 53, who were older than 5\u2009years of age and ambulant at first recorded visit. Subjects who were corticosteroid\u2010naive or enrolled in interventional clinical trials were excluded. The progression of respiratory function (absolute forced vital capacity [FVC] and calculated as percent predicted [FVC%]) was compared across the four subgroups (skip44, skip45, skip51, skip53).<\/jats:p><\/jats:sec>Results<\/jats:title>We included 142 boys in the study. Mean (standard deviation) age at first visit was 8.6 (2.5) years. Median follow\u2010up was 3 (range, 0.3\u20108.3) years. In skip45 and skip51, FVC% declined linearly from the first recorded visit. From the age of 9\u2009years, FVC% declined linearly in all genotypes. Skip44 had the slowest (2.7%\/year) and skip51 the fastest (5.9%\/year) annual FVC% decline. The absolute FVC increased progressively in skip44, skip45, and skip51. In skip53, FVC started declining from 14\u2009years of age.<\/jats:p><\/jats:sec>Discussion<\/jats:title>The progression of respiratory dysfunction follows different patterns for specific genotype categories. This information is valuable for prognosis and for the evaluation of exon\u2010skipping therapies.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.27427","type":"journal-article","created":{"date-parts":[[2021,10,7]],"date-time":"2021-10-07T20:38:30Z","timestamp":1633639110000},"page":"67-74","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Genotype\u2010related respiratory progression in Duchenne muscular dystrophy\u2014A multicenter international study"],"prefix":"10.1002","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1147-0126","authenticated-orcid":false,"given":"Federica","family":"Trucco","sequence":"first","affiliation":[{"name":"Dubowitz Neuromuscular Centre University College London Great Ormond Street Institute of Child Health and Great Ormond Street Hospital London UK"},{"name":"Department Paediatric Neuroscience, Guy's and St Thomas NHS Trust and Department Paediatric Respiratory Medicine Royal Brompton Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Ridout","sequence":"additional","affiliation":[{"name":"Population, Policy and Practice Research and Teaching Department University College London Great Ormond Street Institute of Child Health London UK"},{"name":"NIHR Great Ormond Street Hospital Biomedical Research Centre Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joana","family":"Domingos","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre University College London Great Ormond Street Institute of Child Health and Great Ormond Street Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7046-122X","authenticated-orcid":false,"given":"Kate","family":"Maresh","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre University College London Great Ormond Street Institute of Child Health and Great Ormond Street Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Chesshyre","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre University College London Great Ormond Street Institute of Child Health and Great Ormond Street Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pinki","family":"Munot","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre University College London Great Ormond Street Institute of Child Health and Great Ormond Street Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Sarkozy","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre University College London Great Ormond Street Institute of Child Health and Great Ormond Street Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Robb","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre University College London Great Ormond Street Institute of Child Health and Great Ormond Street Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosaline","family":"Quinlivan","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre University College London Great Ormond Street Institute of Child Health and Great Ormond Street Hospital London UK"},{"name":"MRC Centre for Neuromuscular Disease National Hospital for Neurology and Neurosurgery London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mollie","family":"Riley","sequence":"additional","affiliation":[{"name":"Lung Function Laboratory Great Ormond Street Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin","family":"Wallis","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Great Ormond Street Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Great Ormond Street Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francois","family":"Abel","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Great Ormond Street Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvana","family":"De Lucia","sequence":"additional","affiliation":[{"name":"Institute I\u2010Motion H\u00f4pital Armand Trousseau Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Yves","family":"Hogrel","sequence":"additional","affiliation":[{"name":"Institute I\u2010Motion H\u00f4pital Armand Trousseau Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik H.","family":"Niks","sequence":"additional","affiliation":[{"name":"Department of Neurology Leiden University Medical Center Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Imelda","family":"de Groot","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation, Donders Center for Medical Neuroscience Radboud University Medical Center Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Servais","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Des Maladies Neuromusculaires, CHU de Li\u00e8ge Li\u00e8ge Belgium"},{"name":"Department of Paediatrics MDUK Neuromuscular Center, University of Oxford Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Volker","family":"Straub","sequence":"additional","affiliation":[{"name":"The John Walton Muscular Dystrophy Research Centre Newcastle University and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Ricotti","sequence":"additional","affiliation":[{"name":"NIHR Great Ormond Street Hospital Biomedical Research Centre Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adnan","family":"Manzur","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre University College London Great Ormond Street Institute of Child Health and Great Ormond Street Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre University College London Great Ormond Street Institute of Child Health and Great Ormond Street Hospital London UK"},{"name":"NIHR Great Ormond Street Hospital Biomedical Research Centre Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"for the UK NorthStar Clinical Network and AFM Network","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,10,27]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(18)30025-5"},{"key":"e_1_2_10_3_1","doi-asserted-by":"crossref","unstructured":"Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology. Gloss D Moxley RT 3rd Ashwal S Oskoui M. Neurology.2016;86(5):465\u201072.https:\/\/doi.org\/10.1212\/WNL.0000000000002337.","DOI":"10.1212\/WNL.0000000000002337"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(17)32160-8"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.chest.2020.04.043"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.07.004"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-019-0203-3"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000009233"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-170272"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-180351"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-200483"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0004347"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-011-5979-z"},{"key":"e_1_2_10_14_1","first-page":"149","article-title":"The NorthStar ambulatory assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials","volume":"87","author":"Ricotti V","year":"2016","journal-title":"J Neurol Neurosurg Psychiatry."},{"key":"e_1_2_10_15_1","doi-asserted-by":"crossref","unstructured":"DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study.Bello L Morgenroth LP Gordish\u2010Dressman H Hoffman EP McDonald CM Cirak S; CINRG investigators. Neurology.2016;87(4):401\u20109.https:\/\/doi.org\/10.1212\/WNL.0000000000002891. Epub 2016 Jun 24. 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Duchenne muscular dystrophy patients lacking the dystrophin isoforms Dp140 and Dp71 and mouse models lacking Dp140 have a more severe motor phenotype.https:\/\/doi.org\/10.1101\/2021.07.27.21261120.","DOI":"10.1101\/2021.07.27.21261120"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12922"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201703-0507WS"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.23172"}],"container-title":["Muscle & Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.27427","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mus.27427","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.27427","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T16:59:23Z","timestamp":1692982763000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.27427"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,27]]},"references-count":27,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["10.1002\/mus.27427"],"URL":"https:\/\/doi.org\/10.1002\/mus.27427","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,10,27]]},"assertion":[{"value":"2021-04-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-09-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-10-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}