{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T03:43:57Z","timestamp":1791431037682,"version":"4.3.3"},"reference-count":39,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,12,22]],"date-time":"2017-12-22T00:00:00Z","timestamp":1513900800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 AR044345"],"award-info":[{"award-number":["R01 AR044345"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["MDA383249"],"award-info":[{"award-number":["MDA383249"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000069","name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000069","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>Introduction<\/jats:italic>\n                    : X\u2010linked myotubular myopathy (XLMTM), characterized by severe hypotonia, weakness, respiratory distress, and early mortality, is rare and natural history studies are few.\n                    <jats:italic>Methods<\/jats:italic>\n                    : RECENSUS is a multicenter chart review of male XLMTM patients characterizing disease burden and unmet medical needs. Data were collected between September 2014 and June 2016.\n                    <jats:italic>Results<\/jats:italic>\n                    : Analysis included 112 patients at six clinical sites. Most recent patient age recorded was \u226418 months for 40 patients and &gt;18 months for 72 patients. Mean (SD) age at diagnosis was 3.7 (3.7) months and 54.3 (77.1) months, respectively. Mortality was 44% (64% \u226418 months; 32% &gt;18 months). Premature delivery occurred in 34\/110 (31%) births. Nearly all patients (90%) required respiratory support at birth. In the first year of life, patients underwent an average of 3.7 surgeries and spent 35% of the year in the hospital.\n                    <jats:italic>Discussion<\/jats:italic>\n                    : XLMTM is associated with high mortality, disease burden, and healthcare utilization.\n                    <jats:italic>Muscle Nerve<\/jats:italic>\n                    <jats:bold>57<\/jats:bold>\n                    : 550\u2013560, 2018\n                  <\/jats:p>","DOI":"10.1002\/mus.26018","type":"journal-article","created":{"date-parts":[[2017,11,17]],"date-time":"2017-11-17T18:12:37Z","timestamp":1510942357000},"page":"550-560","source":"Crossref","is-referenced-by-count":77,"title":["A multicenter, retrospective medical record review of X\u2010linked myotubular myopathy: The recensus study"],"prefix":"10.1002","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8818-0568","authenticated-orcid":false,"given":"Alan H.","family":"Beggs","sequence":"first","affiliation":[{"name":"Division of Genetics and Genomics, The Manton Center for Orphan Disease Research Boston Children's Hospital, Harvard Medical School 300 Longwood Avenue Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barry J.","family":"Byrne","sequence":"additional","affiliation":[{"name":"Children's Research Institute University of Florida Gainesville, Gainesville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"De Chastonay","sequence":"additional","affiliation":[{"name":"Cure CMD Torrance California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tmirah","family":"Haselkorn","sequence":"additional","affiliation":[{"name":"EpiMetrix, Inc. 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Lurie Children's Hospital of Chicago Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Simon","sequence":"additional","affiliation":[{"name":"Statistics Collaborative Washington DC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsay C.","family":"Swanson","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics, The Manton Center for Orphan Disease Research Boston Children's Hospital, Harvard Medical School 300 Longwood Avenue Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele L.","family":"Yang","sequence":"additional","affiliation":[{"name":"Children's Hospital Colorado Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zi\u2010Fan","family":"Yu","sequence":"additional","affiliation":[{"name":"Statistics Collaborative Washington DC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina W.","family":"Yum","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suyash","family":"Prasad","sequence":"additional","affiliation":[{"name":"Audentes Therapeutics San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,12,22]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0696-175"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.jnen.0000171653.17213.2e"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.201"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.hmg.a018913"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(01)02245-4"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbior.2016.09.001"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/nlv020"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.91"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-26"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(02)00153-0"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10033"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(99)70417-8"},{"key":"e_1_2_7_14_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Das S","year":"2011"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-140040"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn112"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3007523"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1003677107"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2017.02.004"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt003"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI71206"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms15661"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI86841"},{"key":"e_1_2_7_24_1","unstructured":"NCT03199469 \u2010 Gene Transfer Clinical Study in X\u2010Linked Myotubular Myopathy (ASPIRO). 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