{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T07:14:36Z","timestamp":1791357276155,"version":"4.3.1"},"reference-count":36,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,12,29]],"date-time":"2017-12-29T00:00:00Z","timestamp":1514505600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2017,12,29]],"date-time":"2017-12-29T00:00:00Z","timestamp":1514505600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000329","name":"Novo Nordisk UK Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000329","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003554","name":"Lundbeckfonden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003554","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Neurol Scand"],"published-print":{"date-parts":[[2018,5]]},"DOI":"10.1111\/ane.12885","type":"journal-article","created":{"date-parts":[[2017,12,29]],"date-time":"2017-12-29T05:42:55Z","timestamp":1514526175000},"page":"452-461","source":"Crossref","is-referenced-by-count":40,"title":["Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome"],"prefix":"10.1155","volume":"137","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0664-0709","authenticated-orcid":false,"given":"N.","family":"Witting","sequence":"first","affiliation":[{"name":"Department of Neurology; Copenhagen Neuromuscular Centre; Rigshospitalet; University of Copenhagen; Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Lafor\u00eat","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence de Pathologie Neuromusculaire Paris-Est; Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re; Institut de Myologie; AP-HP; Paris Cedex France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. C.","family":"Voermans","sequence":"additional","affiliation":[{"name":"Department of Human Genetics; Radboud University Medical Centre; Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Roux-Buisson","sequence":"additional","affiliation":[{"name":"INSERM U121; Equipe CMyPath; Institut des Neurosciences; Grenoble France"},{"name":"Biochimie G\u00e9n\u00e9tique et Mol\u00e9culaire; Institut de Biologie et Pathologie; CHU; Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Bompaire","sequence":"additional","affiliation":[{"name":"Neurologie; Hopital d'instruction des Arm\u00e9es Percy; Clamart France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Rendu","sequence":"additional","affiliation":[{"name":"INSERM U121; Equipe CMyPath; Institut des Neurosciences; Grenoble France"},{"name":"Biochimie G\u00e9n\u00e9tique et Mol\u00e9culaire; Institut de Biologie et Pathologie; CHU; Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Duno","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics; Rigshospitalet; University of Copenhagen; Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Feillet","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Infantile 1; Centre de R\u00e9f\u00e9rence des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme; Centre Hospitalier Universitaire Brabois-Enfants; Vand\u0153uvre-l\u00e8s-Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.-J.","family":"Kamsteeg","sequence":"additional","affiliation":[{"name":"Department of Human Genetics; Radboud University Medical Centre; Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. S.","family":"Poulsen","sequence":"additional","affiliation":[{"name":"Department of Neurology; Copenhagen Neuromuscular Centre; Rigshospitalet; University of Copenhagen; Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. R.","family":"Dahlqvist","sequence":"additional","affiliation":[{"name":"Department of Neurology; Copenhagen Neuromuscular Centre; Rigshospitalet; University of Copenhagen; Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. B.","family":"Romero","sequence":"additional","affiliation":[{"name":"Laboratoire de Pathologie Musculaire Risler; Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re; Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Faur\u00e9","sequence":"additional","affiliation":[{"name":"INSERM U121; Equipe CMyPath; Institut des Neurosciences; Grenoble France"},{"name":"Biochimie G\u00e9n\u00e9tique et Mol\u00e9culaire; Institut de Biologie et Pathologie; CHU; Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Vissing","sequence":"additional","affiliation":[{"name":"Department of Neurology; Copenhagen Neuromuscular Centre; Rigshospitalet; University of Copenhagen; Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Behin","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence de Pathologie Neuromusculaire Paris-Est; Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re; Institut de Myologie; AP-HP; Paris Cedex France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,12,29]]},"reference":[{"key":"10.1111\/ane.12885-BIB0001|ane12885-cit-0001","first-page":"1","article-title":"Rhabdomyolysis: advances in diagnosis and treatment","volume":"14","author":"Parekh","year":"2012","journal-title":"Emerg Med Pract"},{"key":"10.1111\/ane.12885-BIB0002|ane12885-cit-0002","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1016\/j.nmd.2014.05.005","article-title":"Rhabdomyolysis: review of the literature","volume":"24","author":"Zutt","year":"2014","journal-title":"Neuromuscul Disord"},{"key":"10.1111\/ane.12885-BIB0003|ane12885-cit-0003","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1002\/9781118777329.ch126","volume-title":"International Neurology: A Clinical Approach","author":"Vissing","year":"2016","edition":"2"},{"key":"10.1111\/ane.12885-BIB0004|ane12885-cit-0004","doi-asserted-by":"crossref","first-page":"886","DOI":"10.1111\/j.1469-8749.2012.04320.x","article-title":"Myopathic causes of exercise intolerance with rhabdomyolysis","volume":"54","author":"Quinlivan","year":"2012","journal-title":"Dev Med Child Neurol"},{"key":"10.1111\/ane.12885-BIB0005|ane12885-cit-0005","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1016\/j.nmd.2013.03.008","article-title":"Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis","volume":"23","author":"Dlamini","year":"2013","journal-title":"Neuromuscul Disord"},{"key":"10.1111\/ane.12885-BIB0006|ane12885-cit-0006","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1016\/j.ncl.2014.04.007","article-title":"Idiopathic inflammatory myopathies","volume":"32","author":"Dimachkie","year":"2014","journal-title":"Neurol Clin"},{"key":"10.1111\/ane.12885-BIB0007|ane12885-cit-0007","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1093\/bja\/88.4.508","article-title":"Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees","volume":"88","author":"Davis","year":"2002","journal-title":"Br J Anaesth"},{"key":"10.1111\/ane.12885-BIB0008|ane12885-cit-0008","doi-asserted-by":"crossref","first-page":"531465","DOI":"10.1155\/2013\/531465","article-title":"Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations","volume":"2013","author":"Carsana","year":"2013","journal-title":"ScientificWorldJournal"},{"key":"10.1111\/ane.12885-BIB0009|ane12885-cit-0009","doi-asserted-by":"crossref","first-page":"1094","DOI":"10.1111\/ene.12713","article-title":"RYR1-related myopathies: a wide spectrum of phenotypes throughout life","volume":"22","author":"Snoeck","year":"2015","journal-title":"Eur J Neurol"},{"key":"10.1111\/ane.12885-BIB0010|ane12885-cit-0010","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1097\/00000542-200101000-00019","article-title":"Evidence for susceptibility to malignant hyperthermia in patients with exercise-induced rhabdomyolysis","volume":"94","author":"Wappler","year":"2001","journal-title":"Anesthesiology"},{"key":"10.1111\/ane.12885-BIB0011|ane12885-cit-0011","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1213\/XAA.0000000000000043","article-title":"Improving awareness of nonanesthesia-related malignant hyperthermia presentations: a tale of two brothers","volume":"3","author":"Potts","year":"2014","journal-title":"A A Case Rep"},{"key":"10.1111\/ane.12885-BIB0012|ane12885-cit-0012","doi-asserted-by":"crossref","first-page":"938","DOI":"10.1097\/ALN.0b013e3182320068","article-title":"Identical de novo mutation in the type 1 ryanodine receptor gene associated with fatal, stress-induced malignant hyperthermia in two unrelated families","volume":"115","author":"Groom","year":"2011","journal-title":"Anesthesiology"},{"key":"10.1111\/ane.12885-BIB0013|ane12885-cit-0013","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1007\/s12630-017-0865-5","article-title":"Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review","volume":"64","author":"Kraeva","year":"2017","journal-title":"Can J Anaesth"},{"key":"10.1111\/ane.12885-BIB0014|ane12885-cit-0014","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1093\/bja\/aep204","article-title":"Genetic variation in RYR1 and malignant hyperthermia phenotypes","volume":"103","author":"Carpenter","year":"2009","journal-title":"Br J Anaesth"},{"key":"10.1111\/ane.12885-BIB0015|ane12885-cit-0015","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1016\/0888-7543(91)90084-R","article-title":"A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia","volume":"11","author":"Gillard","year":"1991","journal-title":"Genomics"},{"key":"10.1111\/ane.12885-BIB0016|ane12885-cit-0016","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1002\/humu.23072","article-title":"Genotype-phenotype correlations of malignant hyperthermia and central core disease mutations in the central region of the RYR1 channel","volume":"37","author":"Murayama","year":"2016","journal-title":"Hum Mutat"},{"key":"10.1111\/ane.12885-BIB0017|ane12885-cit-0017","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1016\/j.neurol.2016.07.018","article-title":"RYR1-related rhabdomyolysis: a common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction","volume":"172","author":"Voermans","year":"2016","journal-title":"Rev Neurol (Paris)"},{"key":"10.1111\/ane.12885-BIB0018|ane12885-cit-0018","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.jmb.2014.08.004","article-title":"Ryanodine receptors: allosteric ion channel giants","volume":"427","author":"Van","year":"2015","journal-title":"J Mol Biol"},{"key":"10.1111\/ane.12885-BIB0019|ane12885-cit-0019","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1086\/377590","article-title":"ACTN3 genotype is associated with human elite athletic performance","volume":"73","author":"Yang","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1111\/ane.12885-BIB0020|ane12885-cit-0020","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1136\/jnnp.2009.195040","article-title":"McArdle disease: a clinical review","volume":"81","author":"Quinlivan","year":"2010","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1111\/ane.12885-BIB0021|ane12885-cit-0021","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.1093\/hmg\/3.10.1855","article-title":"Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees","volume":"3","author":"Keating","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ane.12885-BIB0022|ane12885-cit-0022","doi-asserted-by":"crossref","first-page":"2181","DOI":"10.1093\/hmg\/3.12.2181","article-title":"The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia","volume":"3","author":"Phillips","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1111\/ane.12885-BIB0023|ane12885-cit-0023","doi-asserted-by":"crossref","first-page":"5256","DOI":"10.1074\/jbc.272.8.5256","article-title":"Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle","volume":"272","author":"Richter","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1111\/ane.12885-BIB0024|ane12885-cit-0024","doi-asserted-by":"crossref","first-page":"702","DOI":"10.3343\/kjlm.2010.30.6.702","article-title":"[Molecular genetic analysis of the ryanodine receptor gene (RYR1) in Korean malignant hyperthermia families]","volume":"30","author":"Lee","year":"2010","journal-title":"Korean J Lab Med"},{"key":"10.1111\/ane.12885-BIB0025|ane12885-cit-0025","doi-asserted-by":"crossref","first-page":"1504","DOI":"10.1007\/s00415-012-6817-7","article-title":"A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene","volume":"260","author":"Loseth","year":"2013","journal-title":"J Neurol"},{"key":"10.1111\/ane.12885-BIB0026|ane12885-cit-0026","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1086\/301748","article-title":"Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation","volume":"62","author":"Manning","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1111\/ane.12885-BIB0027|ane12885-cit-0027","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1002\/humu.20696","article-title":"Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores","volume":"29","author":"Monnier","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1111\/ane.12885-BIB0028|ane12885-cit-0028","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1002\/mus.20715","article-title":"Central core disease due to recessive mutations in RYR1 gene: is it more common than described?","volume":"35","author":"Kossugue","year":"2007","journal-title":"Muscle Nerve"},{"key":"10.1111\/ane.12885-BIB0029|ane12885-cit-0029","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1212\/WNL.59.2.284","article-title":"Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores","volume":"59","author":"Jungbluth","year":"2002","journal-title":"Neurology"},{"key":"10.1111\/ane.12885-BIB0030|ane12885-cit-0030","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/0888-7543(91)90083-Q","article-title":"Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families","volume":"11","author":"Otsu","year":"1991","journal-title":"Genomics"},{"key":"10.1111\/ane.12885-BIB0031|ane12885-cit-0031","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1111\/j.1399-0004.1997.tb02561.x","article-title":"Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation","volume":"52","author":"Fagerlund","year":"1997","journal-title":"Clin Genet"},{"key":"10.1111\/ane.12885-BIB0032|ane12885-cit-0032","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1002\/humu.22056","article-title":"Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies","volume":"33","author":"Klein","year":"2012","journal-title":"Hum Mutat"},{"key":"10.1111\/ane.12885-BIB0033|ane12885-cit-0033","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.celrep.2014.12.015","article-title":"Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families","volume":"10","author":"Alazami","year":"2015","journal-title":"Cell Rep"},{"key":"10.1111\/ane.12885-BIB0034|ane12885-cit-0034","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1034\/j.1399-0004.2002.620206.x","article-title":"Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation","volume":"62","author":"Wehner","year":"2002","journal-title":"Clin Genet"},{"key":"10.1111\/ane.12885-BIB0035|ane12885-cit-0035","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1007\/s12630-011-9494-6","article-title":"Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population","volume":"58","author":"Kraeva","year":"2011","journal-title":"Can J Anaesth"},{"key":"10.1111\/ane.12885-BIB0036|ane12885-cit-0036","doi-asserted-by":"crossref","first-page":"E1544","DOI":"10.1002\/humu.21278","article-title":"Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion","volume":"31","author":"Clarke","year":"2010","journal-title":"Hum Mutat"}],"container-title":["Acta Neurologica Scandinavica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fane.12885","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1111\/ane.12885\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,20]],"date-time":"2022-12-20T12:51:11Z","timestamp":1671540671000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ane.12885"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12,29]]},"references-count":36,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2018,5]]}},"URL":"https:\/\/doi.org\/10.1111\/ane.12885","archive":["Portico"],"relation":{},"ISSN":["0001-6314"],"issn-type":[{"value":"0001-6314","type":"print"}],"subject":[],"published":{"date-parts":[[2017,12,29]]}}}