{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T17:38:33Z","timestamp":1787161113578,"version":"build-2736575974"},"reference-count":66,"publisher":"Oxford University Press (OUP)","issue":"11","license":[{"start":{"date-parts":[[2021,12,24]],"date-time":"2021-12-24T00:00:00Z","timestamp":1640304000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100000925","name":"NHMRC","doi-asserted-by":"crossref","award":["APP1080587"],"award-info":[{"award-number":["APP1080587"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000925","name":"NHMRC","doi-asserted-by":"crossref","award":["APP1146321"],"award-info":[{"award-number":["APP1146321"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000925","name":"NHMRC","doi-asserted-by":"crossref","award":["APP2002640"],"award-info":[{"award-number":["APP2002640"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"crossref"}]},{"name":"NHMRC CDF","award":["APP1122952"],"award-info":[{"award-number":["APP1122952"]}]},{"DOI":"10.13039\/501100000925","name":"NHMRC","doi-asserted-by":"crossref","award":["APP1117510"],"award-info":[{"award-number":["APP1117510"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000925","name":"NHMRC","doi-asserted-by":"crossref","award":["APP1154524"],"award-info":[{"award-number":["APP1154524"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,11,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Rhabdomyolysis is the acute breakdown of skeletal myofibres in response to an initiating factor, most commonly toxins and over exertion. A variety of genetic disorders predispose to rhabdomyolysis through different pathogenic mechanisms, particularly in patients with recurrent episodes. However, most cases remain without a genetic diagnosis.<\/jats:p>\n                  <jats:p>Here we present six patients who presented with severe and recurrent rhabdomyolysis, usually with onset in the teenage years; other features included a history of myalgia and muscle cramps. We identified 10 bi-allelic loss-of-function variants in the gene encoding obscurin (OBSCN) predisposing individuals to recurrent rhabdomyolysis. We show reduced expression of OBSCN and loss of obscurin protein in patient muscle. Obscurin is proposed to be involved in sarcoplasmic reticulum function and Ca2+ handling. Patient cultured myoblasts appear more susceptible to starvation as evidenced by a greater decreased in sarcoplasmic reticulum Ca2+ content compared to control myoblasts. This likely reflects a lower efficiency when pumping Ca2+ back into the sarcoplasmic reticulum and\/or a decrease in Ca2+ sarcoplasmic reticulum storage ability when metabolism is diminished. OSBCN variants have previously been associated with cardiomyopathies. None of the patients presented with a cardiomyopathy and cardiac examinations were normal in all cases in which cardiac function was assessed. There was also no history of cardiomyopathy in first degree relatives, in particular in any of the carrier parents.<\/jats:p>\n                  <jats:p>This cohort is relatively young, thus follow-up studies and the identification of additional cases with bi-allelic null OBSCN variants will further delineate OBSCN-related disease and the clinical course of disease.<\/jats:p>","DOI":"10.1093\/brain\/awab484","type":"journal-article","created":{"date-parts":[[2021,12,23]],"date-time":"2021-12-23T07:19:06Z","timestamp":1640243946000},"page":"3985-3998","source":"Crossref","is-referenced-by-count":25,"title":["Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis"],"prefix":"10.1093","volume":"145","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3109-6095","authenticated-orcid":false,"given":"Macarena","family":"Cabrera-Serrano","sequence":"first","affiliation":[{"name":"Harry Perkins Institute of Medical Research , Nedlands, WA , Australia"},{"name":"Centre of Medical Research, University of Western Australia , Nedlands, WA , Australia"},{"name":"Unidad de Enfermedades Neuromusculares. Servicio de Neurologia y Neurofisiologia, Hospital Virgen del Rocio , Sevilla , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laure","family":"Caccavelli","sequence":"additional","affiliation":[{"name":"Inserm U1151, Institut Necker Enfants-Malades, Reference Center of Inherited Metabolic Diseases and MetabERN, Necker-Enfants-Malades Hospital, Paris University , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2591-244X","authenticated-orcid":false,"given":"Marco","family":"Savarese","sequence":"additional","affiliation":[{"name":"Folkh\u00e4lsan Research Center, Helsinki, Finland and Department of Medical Genetics, Medicum, University of Helsinki , Helsinki , Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Vihola","sequence":"additional","affiliation":[{"name":"Folkh\u00e4lsan Research Center, Helsinki, Finland and Department of Medical Genetics, Medicum, University of Helsinki , Helsinki , Finland"},{"name":"Tampere Neuromuscular Center, Tampere University Hospital , Tampere , Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manu","family":"Jokela","sequence":"additional","affiliation":[{"name":"Neuromuscular Research Center, Department of Neurology, Tampere University and University Hospital , Tampere , Finland"},{"name":"Neurocenter, Department of Neurology, Clinical Neurosciences, Turku University Hospital and University of Turku , Turku , Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3549-558X","authenticated-orcid":false,"given":"Mridul","family":"Johari","sequence":"additional","affiliation":[{"name":"Folkh\u00e4lsan Research Center, Helsinki, Finland and Department of Medical Genetics, Medicum, University of Helsinki , Helsinki , Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Capiod","sequence":"additional","affiliation":[{"name":"Inserm U1151, Institut Necker Enfants-Malades, Reference Center of Inherited Metabolic Diseases and MetabERN, Necker-Enfants-Malades Hospital, Paris University , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marine","family":"Madrange","sequence":"additional","affiliation":[{"name":"Inserm U1151, Institut Necker Enfants-Malades, Reference Center of Inherited Metabolic Diseases and MetabERN, Necker-Enfants-Malades Hospital, Paris University , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9709-6699","authenticated-orcid":false,"given":"Enrico","family":"Bugiardini","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology , London , 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Helsinki Institute of Life Science, University of Helsinki , Helsinki , Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bjarne","family":"Udd","sequence":"additional","affiliation":[{"name":"Folkh\u00e4lsan Research Center, Helsinki, Finland and Department of Medical Genetics, Medicum, University of Helsinki , Helsinki , Finland"},{"name":"Tampere Neuromuscular Center, Tampere University Hospital , Tampere , Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alistair R R","family":"Forrest","sequence":"additional","affiliation":[{"name":"Harry Perkins Institute of Medical Research , Nedlands, WA , Australia"},{"name":"Centre of Medical Research, University of Western Australia , Nedlands, WA , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark R","family":"Davis","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Genomics, PathWest Laboratory Medicine WA , Nedlands, WA , 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