{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T22:44:35Z","timestamp":1787957075762,"version":"build-2784847793"},"reference-count":33,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T00:00:00Z","timestamp":1698192000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J cachexia sarcopenia muscle"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Mutations in the 79 exons of the dystrophin gene result in muscle wasting and weakness of varying clinical severity, ranging from severe\/typical Duchenne muscular dystrophy (DMD) to intermediate DMD and mild Becker muscular dystrophy (BMD), depending on the frameshift of the mutation. We previously reported that males with DMD have progressively declining appendicular lean mass (ALM) and ALM index (ALMI) with age and worsening functional motor ability compared with healthy controls. These indices have not been studied in patients with intermediate DMD and BMD phenotypes and across DMD genotypes. In this study, we compared age\u2010related trajectories of ALM and ALMI of patients who had (1) BMD without functional mobility deficits with patients who had DMD at different stages of disease and healthy controls; (2) a DMD intermediate phenotype with patients who had a typical DMD phenotype; and (3) DMD categorized by genotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We conducted a retrospective review of ALM and ALMI data from 499 patients (ages 5\u201323\u00a0years) with DMD (466 typical and 33 intermediate) and 46 patients (ages 5\u201321\u00a0years) with BMD (without functional mobility deficits and functional mobility score of 1). Patients were grouped according to age reflecting disease stage (ages 5 to &lt;7, 7 to &lt;10, 10 to &lt;14, and 14 to &lt;20\u00a0years) and genotype (mutations in exons 1\u201330, 31\u201344, 45\u201362, and 63\u201379).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>ALM and ALMI trajectories of patients with BMD paralleled those of healthy controls until adolescence, in contrast to patients with DMD. ALMI <jats:italic>Z<\/jats:italic>\u2010scores of patients with BMD remained within \u00b12 SD without decline while those of patients with DMD fell below \u22122 SD around age 12\u00a0years. Patients with BMD had increasing ALM and ALMI with age, with peak accrual between ages 10 to &lt;14\u00a0years. ALMI declined after age 14\u00a0years for those with intermediate DMD compared with 10\u00a0years for patients with typical DMD. Patients with mutations in exons 63\u201379 had a greater decline in ALMI as compared with those with other genotypes after age 10\u00a0years.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Age\u2010related changes in ALMI in patients with BMD and intermediate DMD differ from those with typical DMD, reflecting their clinical phenotypes. ALM and ALMI should be further studied in patients with BMD and DMD subtypes for their potential value as surrogate markers to characterize the severity of BMD and DMD and inform clinical care decisions and clinical trial designs.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcsm.13357","type":"journal-article","created":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T17:08:48Z","timestamp":1698253728000},"page":"2804-2812","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Appendicular lean mass index changes in patients with Duchenne muscular dystrophy and Becker muscular dystrophy"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0971-9789","authenticated-orcid":false,"given":"Brenda L.","family":"Wong","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Neurology, DMD Program University of Massachusetts Chan Medical School  Worcester MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne","family":"Summer","sequence":"additional","affiliation":[{"name":"Clinical Translational Research Center Cincinnati Children's Hospital Medical Center  Cincinnati OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul S.","family":"Horn","sequence":"additional","affiliation":[{"name":"Division of Neurology Cincinnati Children's Hospital Medical Center  Cincinnati OH USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meilan M.","family":"Rutter","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati OH USA"},{"name":"Division of Endocrinology Cincinnati Children's Hospital Medical Center  Cincinnati OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Rybalsky","sequence":"additional","affiliation":[{"name":"Division of Neurology Cincinnati Children's Hospital Medical Center  Cincinnati OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cuixia","family":"Tian","sequence":"additional","affiliation":[{"name":"Division of Neurology Cincinnati Children's Hospital Medical Center  Cincinnati OH USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen C.","family":"Shellenbarger","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Neurology, DMD Program University of Massachusetts Chan Medical School  Worcester MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidi J.","family":"Kalkwarf","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati OH USA"},{"name":"Division of Gastroenterology, Hepatology and Nutrition Cincinnati Children's Hospital Medical Center  Cincinnati OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,10,25]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00858725"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ge.22.120188.003125"},{"key":"e_1_2_7_4_1","first-page":"498","article-title":"The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion","volume":"45","author":"Koenig M","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0032-1329199"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880170411"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4598(199606)19:6<777::AID-MUS15>3.0.CO;2-I"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21212"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27107"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2016.11.078"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-1111"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-2553"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcn\/81.5.1018"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.2517-6161.1964.tb00553.x"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/sim.4780111005"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(18)30024-3"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001950"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2012-303902"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318225ab2e"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/psp4.12220"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.3945\/ajcn.112.053611"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/ageing\/afq034"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCO.0b013e328312c37d"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1559-4564.2007.06673.x"},{"key":"e_1_2_7_25_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_7_26_1","doi-asserted-by":"publisher","DOI":"10.1046\/J.1469-1809.2005.00160.x"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.6.737"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M411571200"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp320"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26803"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.4.559"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2012.03.020"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.omtn.2020.08.019"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-022-23072-5"}],"container-title":["Journal of Cachexia, Sarcopenia and Muscle"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcsm.13357","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,11]],"date-time":"2024-01-11T05:07:09Z","timestamp":1704949629000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcsm.13357"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,25]]},"references-count":33,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,12]]}},"alternative-id":["10.1002\/jcsm.13357"],"URL":"https:\/\/doi.org\/10.1002\/jcsm.13357","archive":["Portico"],"relation":{},"ISSN":["2190-5991","2190-6009"],"issn-type":[{"value":"2190-5991","type":"print"},{"value":"2190-6009","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10,25]]},"assertion":[{"value":"2023-03-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-25","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}