{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:03:12Z","timestamp":1753869792723,"version":"3.41.2"},"reference-count":18,"publisher":"Wiley","license":[{"start":{"date-parts":[[2024,7,24]],"date-time":"2024-07-24T00:00:00Z","timestamp":1721779200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction\/Aims<\/jats:title><jats:p>Ryanodine receptor 1 (RYR1)\u2010related myopathies associated with variants in the <jats:italic>RYR1<\/jats:italic> gene present with a wide range of symptoms and severity. Two of the milder phenotypes associated with dominant pathogenic variants in <jats:italic>RYR1<\/jats:italic> are rhabdomyolysis and myalgia. Only a few studies have investigated the muscle function and structure of individuals with <jats:italic>RYR1<\/jats:italic>\u2010related rhabdomyolysis\/myalgia objectively, showing inconsistent results. This study aimed to describe structural changes and contractility of muscles in individuals with <jats:italic>RYR1<\/jats:italic>\u2010related rhabdomyolysis\/myalgia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We investigated 15 individuals with dominant variants in the <jats:italic>RYR1<\/jats:italic>\u2010gene and compared them with 15 age\u2010, sex\u2010, and body mass index (BMI)\u2010matched controls using MRI, stationary isokinetic dynamometry, and comprehensive clinical evaluation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>No significant differences were found between individuals with <jats:italic>RYR1<\/jats:italic>\u2010related rhabdomyolysis\/myalgia and healthy controls in peak torque, fat fraction, cross\u2010sectional area, contractile cross\u2010sectional area, or contractility (<jats:italic>p<\/jats:italic>\u2009&gt;\u2009.05) in muscles of the lower back (MRI data only), thigh, or calf. On clinical examination, three individuals exhibited weakness in hip or back extension on the Medical Research Council (MRC) test and eight had muscle hypertrophy. Individuals with weakness were not hypertrophic.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>Most individuals with <jats:italic>RYR1<\/jats:italic>\u2010related rhabdomyolysis\/myalgia have close to normal strength, and normal fat fraction and contractility of muscles, and therefore constitute a mild phenotype of <jats:italic>RYR1<\/jats:italic>\u2010related myopathies.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.28219","type":"journal-article","created":{"date-parts":[[2024,7,24]],"date-time":"2024-07-24T10:45:53Z","timestamp":1721817953000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Structural changes and contractility in muscle assessed by magnetic resonance imaging in individuals with ryanodine receptor 1\u2010related rhabdomyolysis or myalgia"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-5376-9793","authenticated-orcid":false,"given":"Zhe","family":"Lyu","sequence":"first","affiliation":[{"name":"Copenhagen Neuromuscular Center Rigshospitalet, University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tuva \u00c5satun","family":"Solheim","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center Rigshospitalet, University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nanna Scharff","family":"Poulsen","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center Rigshospitalet, University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne\u2010Sofie Vib\u00e6k","family":"Eisum","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center Rigshospitalet, University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gry Hatting","family":"Beha","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center Rigshospitalet, University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Freja","family":"Fornander","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center Rigshospitalet, University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annarita Ghosh","family":"Andersen","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center 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 Rigshospitalet, University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Vissing","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center Rigshospitalet, University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,7,24]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13311\u2010018\u201000677\u20101"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a003996"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/braincomms\/fcac292"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/ane.12885"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND\u2010230018"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24743"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.disamonth.2020.101015"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010019\u201009185\u20104"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.02.008"},{"key":"e_1_2_10_11_1","unstructured":"European Malignant Hyperthermia Group.Diagnostic MH mutations. Accessed August 19 2023.https:\/\/www.emhg.org\/diagnostic-mutations"},{"volume-title":"Joint Range of Motion and Manual Muscle Strength","year":"1989","author":"Musculoskeletal Assessment","key":"e_1_2_10_12_1"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010023\u201029759\u20107"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1249\/MSS.0000000000001119"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12603\u2010010\u20100081\u20102"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2018.07.001"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010019\u201041240\u2010y"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2020.06.007"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010015\u20100310\u20101"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.28219","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,24]],"date-time":"2024-07-24T10:45:58Z","timestamp":1721817958000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.28219"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,24]]},"references-count":18,"alternative-id":["10.1002\/mus.28219"],"URL":"https:\/\/doi.org\/10.1002\/mus.28219","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"type":"print","value":"0148-639X"},{"type":"electronic","value":"1097-4598"}],"subject":[],"published":{"date-parts":[[2024,7,24]]},"assertion":[{"value":"2024-03-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-15","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-24","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"mus.28219"}}