{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T02:15:38Z","timestamp":1740104138887,"version":"3.37.3"},"reference-count":6,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2023,6,14]],"date-time":"2023-06-14T00:00:00Z","timestamp":1686700800000},"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":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A full\u2010term boy born with global hypotonia, weakness, and respiratory insufficiency was finally diagnosed as X\u2010linked centronuclear myopathy by whole exome sequencing, with a mutation in the MTM1 gene encoding myotubularin. In addition to the typical phenotypes, the infant had a distinctive feature in his chest x\u2010ray, extremely thinning ribs. This was presumably due to scarcely antepartum work of breathing and may be an important suggestive indicator for skeletal muscle conditions.<\/jats:p>","DOI":"10.1002\/ppul.26547","type":"journal-article","created":{"date-parts":[[2023,6,14]],"date-time":"2023-06-14T12:51:23Z","timestamp":1686747083000},"page":"2668-2669","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Extremely thinning ribs in severe congenital myopathy"],"prefix":"10.1002","volume":"58","author":[{"given":"Yan","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Xinhua Hospital, School of Medicine Shanghai Jiao Tong University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9326-1012","authenticated-orcid":false,"given":"Yongjun","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Xinhua Hospital, School of Medicine Shanghai Jiao Tong University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,6,14]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"243","article-title":"X\u2010linked myotubular myopathy: a clinical report and a review of the mild phenotype","volume":"76","author":"Barreto\u2010Mota R","year":"2023","journal-title":"Rev Neurol"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26018"},{"key":"e_1_2_7_4_1","doi-asserted-by":"crossref","first-page":"2223","DOI":"10.1212\/WNL.0000000000201084","article-title":"Neuromuscular features in XL\u2010MTM carriers: a cross\u2010sectional study in an unselected cohort","volume":"99","author":"Franken DK","year":"2022","journal-title":"Neurology"},{"volume-title":"GeneReviews(\u00ae)","year":"2002","author":"Dowling JJ","key":"e_1_2_7_5_1"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/nly002"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms15661"}],"container-title":["Pediatric Pulmonology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.26547","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,15]],"date-time":"2023-12-15T02:32:00Z","timestamp":1702607520000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ppul.26547"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,14]]},"references-count":6,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["10.1002\/ppul.26547"],"URL":"https:\/\/doi.org\/10.1002\/ppul.26547","archive":["Portico"],"relation":{},"ISSN":["8755-6863","1099-0496"],"issn-type":[{"type":"print","value":"8755-6863"},{"type":"electronic","value":"1099-0496"}],"subject":[],"published":{"date-parts":[[2023,6,14]]},"assertion":[{"value":"2023-04-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}