{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T14:59:26Z","timestamp":1787065166302,"version":"build-2736575974"},"reference-count":18,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2022,3,1]],"date-time":"2022-03-01T00:00:00Z","timestamp":1646092800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:p>A 26-year-old Asian woman with persistent muscle weakness was diagnosed with polymyositis based on biopsy findings at another hospital 11 years ago. However, her symptoms fluctuated repeatedly under treatment with prednisone and immunosuppressive agents, and worsened 2 months prior to the current presentation. A second muscle biopsy suggested metabolic myopathy, and genetic testing revealed a novel c.1074C\u2009&gt;\u2009T variant in the glycogen synthase 1 gene ( GYS1), which is implicated in muscle glycogen storage disease type 0. However, no abnormalities in glycogen deposition were found by biopsy; rather, muscle fibers exhibited large intracellular lipid droplets. Furthermore, muscle strength was greatly restored and circulating levels of creatine kinase indicative of muscle degeneration greatly reduced by vitamin B2 treatment. Therefore, the final diagnosis was lipid storage myopathy.<\/jats:p>","DOI":"10.1177\/03000605221084873","type":"journal-article","created":{"date-parts":[[2022,3,17]],"date-time":"2022-03-17T03:06:50Z","timestamp":1647486410000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":6,"title":["Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature"],"prefix":"10.1177","volume":"50","author":[{"given":"Xiaoli","family":"Pan","sequence":"first","affiliation":[{"name":"Department of Rheumatology and Immunology, Affiliated Hospital of Zunyi Medical University, Affiliated Hospital of Zunyi Medical University, Zunyi, Guizhou 563003, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Yuan","sequence":"additional","affiliation":[{"name":"School of Foreign Languages of Zunyi Medical University, Zunyi, Guizhou 563003, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bangcui","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, Affiliated Hospital of Zunyi Medical University, Affiliated Hospital of Zunyi Medical University, Zunyi, Guizhou 563003, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendan","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, Affiliated Hospital of Zunyi Medical University, Affiliated Hospital of Zunyi Medical University, Zunyi, Guizhou 563003, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1633-2988","authenticated-orcid":false,"given":"Mei","family":"Tian","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, Affiliated Hospital of Zunyi Medical University, Affiliated Hospital of Zunyi Medical University, Zunyi, Guizhou 563003, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2022,3,17]]},"reference":[{"key":"bibr1-03000605221084873","doi-asserted-by":"publisher","DOI":"10.1111\/head.12246"},{"key":"bibr2-03000605221084873","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2017_27"},{"key":"bibr3-03000605221084873","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21167"},{"key":"bibr4-03000605221084873","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.04.006"},{"key":"bibr5-03000605221084873","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.12.002"},{"key":"bibr6-03000605221084873","doi-asserted-by":"publisher","DOI":"10.1186\/s12944-017-0576-5"},{"key":"bibr7-03000605221084873","doi-asserted-by":"publisher","DOI":"10.4103\/0366-6999.173438"},{"key":"bibr8-03000605221084873","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.10"},{"key":"bibr9-03000605221084873","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm135"},{"key":"bibr10-03000605221084873","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2009.176404"},{"key":"bibr11-03000605221084873","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm054"},{"key":"bibr12-03000605221084873","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-013-9671-6"},{"key":"bibr13-03000605221084873","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-016-2549-2"},{"key":"bibr14-03000605221084873","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2011.11.016"},{"key":"bibr15-03000605221084873","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10226"},{"key":"bibr16-03000605221084873","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0117-5"},{"key":"bibr17-03000605221084873","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e328364dbdc"},{"key":"bibr18-03000605221084873","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2006.01.001"}],"container-title":["Journal of International Medical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605221084873","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/03000605221084873","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605221084873","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T10:50:03Z","timestamp":1777459803000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/03000605221084873"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3]]},"references-count":18,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,3]]}},"alternative-id":["10.1177\/03000605221084873"],"URL":"https:\/\/doi.org\/10.1177\/03000605221084873","relation":{},"ISSN":["0300-0605","1473-2300"],"issn-type":[{"value":"0300-0605","type":"print"},{"value":"1473-2300","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3]]},"article-number":"03000605221084873"}}