{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T21:39:55Z","timestamp":1780781995702,"version":"3.54.1"},"reference-count":97,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,12,8]],"date-time":"2021-12-08T00:00:00Z","timestamp":1638921600000},"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":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Duchenne muscular dystrophy (DMD) is associated with progressive muscle weakness, loss of ambulation (LOA), and early mortality. In this review we have synthesized published data on the clinical course of DMD by genotype. Using a systematic search implemented in Medline and Embase, 53 articles were identified that describe the clinical course of DMD, with pathogenic variants categorizable by exon skip or stop\u2010codon readthrough amenability and outcomes presented by age. Outcomes described included those related to ambulatory, cardiac, pulmonary, or cognitive function. Estimates of the mean (95% confidence interval) age at LOA ranged from 9.1 (8.7\u20109.6) years among 90 patients amenable to skipping exon 53 to 11.5 (9.5\u201013.5) years among three patients amenable to skipping exon 8. Although function worsened with age, the impact of genotype was less clear for other outcomes (eg, forced vital capacity and left ventricular ejection fraction). Understanding the distribution of pathogenic variants is important for studies in DMD, as this research suggests major differences in the natural history of disease. In addition, specific details of the use of key medications, including corticosteroids, antisense oligonucleotides, and cardiac medications, should be reported.<\/jats:p>","DOI":"10.1002\/mus.27463","type":"journal-article","created":{"date-parts":[[2021,12,8]],"date-time":"2021-12-08T09:41:53Z","timestamp":1638956513000},"page":"266-277","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["The impact of genotype on outcomes in individuals with Duchenne muscular dystrophy: A systematic review"],"prefix":"10.1002","volume":"65","author":[{"given":"Shelagh M.","family":"Szabo","sequence":"first","affiliation":[{"name":"Broadstreet Heath Economics &amp; Outcomes Research  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine L.","family":"Gooch","sequence":"additional","affiliation":[{"name":"Sarepta Therapeutics, Inc  Cambridge Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis T.","family":"Mickle","sequence":"additional","affiliation":[{"name":"Broadstreet Heath Economics &amp; Outcomes Research  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renna M.","family":"Salhany","sequence":"additional","affiliation":[{"name":"Sarepta Therapeutics, Inc  Cambridge Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne M.","family":"Connolly","sequence":"additional","affiliation":[{"name":"Division of Neurology, Nationwide Children's Hospital, Ohio State University  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,12,8]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pcl.2015.03.008"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(18)30025-5"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/jpc.12868"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(18)30024-3"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/cphy.c140048"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.2147\/NDT.S93873"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20918"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22758"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002891"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-140002"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0083400"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23561"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-170280"},{"key":"e_1_2_11_15_1","unstructured":"The Cooperative International Neuromuscular Research Group. The Cooperative International Neuromuscular Research Group (CINRG): Ongoing studies.2019.https:\/\/cinrgresearch.org. Accessed 29 November 2021."},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103387"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24370"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0141240"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jclinepi.2009.06.005"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0133214"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/EDE.0b013e3181577654"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jclinepi.2017.04.026"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.l4898"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1445-2197.2003.02748.x"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/mt.2010.45"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(17)31611-2"},{"key":"e_1_2_11_27_1","first-page":"S367","article-title":"Ambulatory outcome measures after the initial 48\u2010week period of a long\u2010term, open\u2010label treatment with Ataluren in patients previously enrolled in Ataluren clinical trials for nonsense mutation Duchenne muscular dystrophy (nmDMD)","volume":"80","author":"Mercuri E","year":"2016","journal-title":"Ann Neurol."},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23902"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000008363"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(99)00108-X"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.2478\/bjmg-2013-0014"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.3390\/jpm8040041"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/14651858.CD003725.pub4"},{"key":"e_1_2_11_34_1","unstructured":"School Psychological Files.Understanding test scores.https:\/\/schoolpsychologistfiles.com\/testscores. Accessed 29 November 2021."},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-180351"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-170272"},{"key":"e_1_2_11_37_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-150100"},{"key":"e_1_2_11_38_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002464"},{"key":"e_1_2_11_39_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-019-02107-4"},{"key":"e_1_2_11_40_1","doi-asserted-by":"publisher","DOI":"10.2217\/cer-2019-0171"},{"key":"e_1_2_11_41_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00200919"},{"key":"e_1_2_11_42_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0563-6"},{"key":"e_1_2_11_43_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0218683"},{"key":"e_1_2_11_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2019.06.002"},{"issue":"1","key":"e_1_2_11_45_1","first-page":"S30","article-title":"Additional benefi ts of Ataluren: 2 case reports","volume":"6","author":"Kulshrestha R","year":"2019","journal-title":"J Neuromuscul Dis"},{"key":"e_1_2_11_46_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp320"},{"key":"e_1_2_11_47_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2018.00316"},{"key":"e_1_2_11_48_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.21204"},{"key":"e_1_2_11_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2016.11.013"},{"key":"e_1_2_11_50_1","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(92)90059-F"},{"key":"e_1_2_11_51_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl083"},{"key":"e_1_2_11_52_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-12-37"},{"key":"e_1_2_11_53_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.10.1907"},{"key":"e_1_2_11_54_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0113999"},{"key":"e_1_2_11_55_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(99)00016-9"},{"key":"e_1_2_11_56_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa073108"},{"key":"e_1_2_11_57_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24332"},{"key":"e_1_2_11_58_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.10.004"},{"key":"e_1_2_11_59_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1011367"},{"key":"e_1_2_11_60_1","first-page":"73","article-title":"Long\u2010term treatment with eteplirsen in nonambulatory patients: a case study in identical twins","volume":"36","author":"Lowes LP","year":"2017","journal-title":"Acta Myol."},{"key":"e_1_2_11_61_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.579"},{"key":"e_1_2_11_62_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24555"},{"key":"e_1_2_11_63_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23982"},{"key":"e_1_2_11_64_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2015.08.002"},{"key":"e_1_2_11_65_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(14)70195-4"},{"key":"e_1_2_11_66_1","doi-asserted-by":"publisher","DOI":"10.1177\/1756286418809588"},{"key":"e_1_2_11_67_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000009233"},{"key":"e_1_2_11_68_1","doi-asserted-by":"publisher","DOI":"10.1002\/ehf2.12165"},{"key":"e_1_2_11_69_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.24205"},{"key":"e_1_2_11_70_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2019.09.095"},{"key":"e_1_2_11_71_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000015858"},{"key":"e_1_2_11_72_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1995.tb12000.x"},{"key":"e_1_2_11_73_1","doi-asserted-by":"publisher","DOI":"10.2478\/bjmg-2014-0071"},{"key":"e_1_2_11_74_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0008803"},{"key":"e_1_2_11_75_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocn.2010.07.118"},{"key":"e_1_2_11_76_1","doi-asserted-by":"publisher","DOI":"10.1179\/016164104773026589"},{"key":"e_1_2_11_77_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2011.08.003"},{"key":"e_1_2_11_78_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25089"},{"key":"e_1_2_11_79_1","doi-asserted-by":"publisher","DOI":"10.1136\/openhrt-2018-000783"},{"key":"e_1_2_11_80_1","doi-asserted-by":"publisher","DOI":"10.5535\/arm.2012.36.1.22"},{"key":"e_1_2_11_81_1","first-page":"158","article-title":"Frameshift deletions of exons 3\u20107 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production","volume":"56","author":"Winnard AV","year":"1995","journal-title":"Am J Hum Genet."},{"key":"e_1_2_11_82_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2005.11.002"},{"key":"e_1_2_11_83_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000000240"},{"key":"e_1_2_11_84_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cardfail.2020.08.002"},{"key":"e_1_2_11_85_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31825f04ea"},{"key":"e_1_2_11_86_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23819"},{"key":"e_1_2_11_87_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2012.04.004"},{"key":"e_1_2_11_88_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.117.001782"},{"issue":"1","key":"e_1_2_11_89_1","first-page":"S103","article-title":"Expression of DP116 is a predisposing factor for cardiac dysfunction in duchenne muscular dystrophy","volume":"5","author":"Yamamoto T","year":"2018","journal-title":"J Neuromuscul Dis."},{"issue":"1","key":"e_1_2_11_90_1","doi-asserted-by":"crossref","first-page":"S10","DOI":"10.1016\/S0960-8966(18)30318-3","article-title":"Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy","volume":"28","author":"Doorenweerd N","year":"2018","journal-title":"Neuromuscul Disord."},{"key":"e_1_2_11_91_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2001.tb00750.x"},{"key":"e_1_2_11_92_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073815570154"},{"key":"e_1_2_11_93_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.11.1877"},{"key":"e_1_2_11_94_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-011-5979-z"},{"key":"e_1_2_11_95_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200488"},{"key":"e_1_2_11_96_1","doi-asserted-by":"publisher","DOI":"10.4103\/jnrp.jnrp_426_17"},{"key":"e_1_2_11_97_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.06.412"},{"issue":"1","key":"e_1_2_11_98_1","first-page":"S122","article-title":"Impact of genotype on boys with Duchenne muscular dystrophy","volume":"37","author":"Pane M","year":"2018","journal-title":"J Heart Lung Transplant."}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.27463","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mus.27463","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.27463","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T15:46:03Z","timestamp":1692805563000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.27463"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,8]]},"references-count":97,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,3]]}},"alternative-id":["10.1002\/mus.27463"],"URL":"https:\/\/doi.org\/10.1002\/mus.27463","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12,8]]},"assertion":[{"value":"2020-11-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-11-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-12-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}