{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T09:11:28Z","timestamp":1790241088705,"version":"4.1.0"},"reference-count":11,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T00:00:00Z","timestamp":1760659200000},"content-version":"vor","delay-in-days":16,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    A novel\n                    <jats:italic>RYR1<\/jats:italic>\n                    mutation (c.C5701T:p.Q1901X) was identified in a 51\u2010year\u2010old female presenting with acute respiratory failure as the primary manifestation of congenital myopathy. This case expands the genotype\u2013phenotype spectrum of\n                    <jats:italic>RYR1<\/jats:italic>\n                    \u2010related myopathies and demonstrates that multidisciplinary intervention\u2014including ventilator support, tracheostomy, and targeted rehabilitation\u2014can significantly improve functional outcomes in late\u2010onset cases.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.70971","type":"journal-article","created":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T02:55:27Z","timestamp":1760756127000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Respiratory Failure Associated With Mutations in the\n                    <scp>RYR1<\/scp>\n                    Gene: A Case Report"],"prefix":"10.1002","volume":"13","author":[{"given":"Chenliang","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Critical Care Medicine Heyou Hospital  Foshan City Guangdong P.R. 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China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinhui","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Chinese Medicine &amp; Rehabilitation The Second Affiliated Hospital of Zhejiang University School of Medicine  Zhejiang Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4515-5159","authenticated-orcid":false,"given":"Jianrong","family":"Xiong","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation, Xinhua Hospital, School of Medicine Shanghai Jiao Tong University  Shanghai China"},{"name":"Department of Rehabilitation Medicine The First Affiliated Hospital of Zhejiang Chinese Medical University (Zhejiang Provincial Hospital of Chinese Medicine)  Zhejiang Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,10,17]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.11.003"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2017.191"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14365"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eclinm.2024.102433"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000000978"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.12713"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1158\/2159-8290.CD-18-0099"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-018-00677-1"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/CON.0000000000000404"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2018.07.011"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12551-020-00610-x"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.70971","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.70971","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.70971","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T08:50:28Z","timestamp":1790239828000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.70971"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10]]},"references-count":11,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2025,10]]}},"alternative-id":["10.1002\/ccr3.70971"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.70971","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10]]},"assertion":[{"value":"2025-04-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-17","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-17","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70971"}}