{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T15:20:39Z","timestamp":1778858439463,"version":"3.51.4"},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,10,7]],"date-time":"2021-10-07T00:00:00Z","timestamp":1633564800000},"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":["Muscle and Nerve"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction\/Aims<\/jats:title><jats:p>Mutations in the anoctamin 5 (<jats:italic>ANO5<\/jats:italic>) gene are a common cause of muscular dystrophy. We aimed to investigate whether inflammatory changes in muscle are present in patients with ANO5 myopathy when assessed by muscle biopsy and muscle magnetic resonance imaging (MRI).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Adults with pathogenic variations in <jats:italic>ANO5<\/jats:italic> known to cause muscular dystrophy were included in our study. Muscle biopsies of pelvic and lower extremity muscles were reviewed retrospectively. Muscle MR short\u2010tau inversion recovery (STIR) images of a subset of these patients were obtained prospectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Muscle biopsies from 24 patients were reviewed. MR STIR images were performed in 17 of these patients. We found inflammatory changes in muscle biopsies of three patients and MRI revealed hyperintense signals on STIR images in 14 of 17 patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>In this study, we found that muscle edema is very common in patients with ANO5 myopathy and that some patients have inflammatory changes in muscle biopsies. Further studies are needed to determine whether the STIR+ lesions reflect inflammation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.27419","type":"journal-article","created":{"date-parts":[[2021,10,9]],"date-time":"2021-10-09T01:56:27Z","timestamp":1633744587000},"page":"743-748","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Muscle biopsy and <scp>MRI<\/scp> findings in <scp>ANO5<\/scp>\u2010related myopathy"],"prefix":"10.1002","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8732-2744","authenticated-orcid":false,"given":"Sonja","family":"Holm\u2010Yildiz","sequence":"first","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology Rigshospitalet, University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0664-0709","authenticated-orcid":false,"given":"Nanna","family":"Witting","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology Rigshospitalet, University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josefine","family":"de Stricker Borch","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology Rigshospitalet, University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Konni","family":"Kass","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology Rigshospitalet, University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tahmina","family":"Khawajazada","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology Rigshospitalet, University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Krag","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology Rigshospitalet, University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Vissing","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology Rigshospitalet, University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,10,7]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"crossref","unstructured":"GrifDA JohnsonRW WhitlockJM et al.Defective membrane fusion and repair inAnoctamin5\u2010deficient muscular dystrophy.2016;25:1900\u20101911.","DOI":"10.1093\/hmg\/ddw063"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-013-6934-y"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2012.05.012"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq294"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.12.013"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.03.011"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22342"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.12191"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-020-09872-7"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(01)00198-5"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880181312"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.11.2136"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25804"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000010155"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.27419","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mus.27419","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.27419","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T09:51:43Z","timestamp":1693216303000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.27419"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,7]]},"references-count":14,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["10.1002\/mus.27419"],"URL":"https:\/\/doi.org\/10.1002\/mus.27419","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,10,7]]},"assertion":[{"value":"2021-01-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-09-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-10-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}