{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T07:34:14Z","timestamp":1771918454825,"version":"3.50.1"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2011,1,19]],"date-time":"2011-01-19T00:00:00Z","timestamp":1295395200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2011,6]]},"DOI":"10.1038\/ejhg.2010.248","type":"journal-article","created":{"date-parts":[[2011,1,19]],"date-time":"2011-01-19T16:26:32Z","timestamp":1295454392000},"page":"732-732","source":"Crossref","is-referenced-by-count":17,"title":["Clinical utility gene card for: malignant hyperthermia"],"prefix":"10.1038","volume":"19","author":[{"given":"Henry","family":"Rosenberg","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henrik","family":"Rueffert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2011,1,19]]},"reference":[{"key":"BFejhg2010248_CR1","unstructured":"European Malignant Hyperthermia Group (EMHG), \n                    http:\/\/www.emhg.org\n                    \n                  ."},{"key":"BFejhg2010248_CR2","unstructured":"Malignant Hyperthermia Association of the United States (MHAUS), \n                    http:\/\/www.mhaus.org\n                    \n                  ."},{"key":"BFejhg2010248_CR3","doi-asserted-by":"publisher","first-page":"562","DOI":"10.1038\/343562a0","volume":"343","author":"TV McCarthy","year":"1990","unstructured":"McCarthy TV, Healy JM, Heffron JJ et al: Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. Nature 1990; 343: 562\u2013564.","journal-title":"Nature"},{"key":"BFejhg2010248_CR4","doi-asserted-by":"publisher","first-page":"1316","DOI":"10.1086\/515454","volume":"60","author":"N Monnier","year":"1997","unstructured":"Monnier N, Procaccio V, Stieglitz P, Lunardi J : Malignant-hyperthermia susceptibility is associated with a mutation of the alpha-1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am J Hum Genet 1997; 60: 1316\u20131325.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2010248_CR5","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1093\/bja\/86.2.283","volume":"86","author":"A Urwyler","year":"2001","unstructured":"Urwyler A, Deufel T, McCarthy T, West S : Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia. Br J Anaesth 2001; 86: 283\u2013287.","journal-title":"Br J Anaesth"},{"key":"BFejhg2010248_CR6","doi-asserted-by":"publisher","first-page":"410","DOI":"10.1002\/(SICI)1098-1004(200005)15:5<410::AID-HUMU2>3.0.CO;2-D","volume":"15","author":"TV McCarthy","year":"2000","unstructured":"McCarthy TV, Quane KA, Lynch PJ : Ryanodine receptor mutations in malignant hyperthermia and central core disease. Hum Mutat 2000; 15: 410\u2013417.","journal-title":"Hum Mutat"},{"key":"BFejhg2010248_CR7","doi-asserted-by":"publisher","first-page":"515","DOI":"10.1097\/00000542-200503000-00007","volume":"102","author":"N Sambuughin","year":"2005","unstructured":"Sambuughin N, Holley H, Muldoon S et al: Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the North American population. Anesthesiology 2005; 102: 515\u2013521.","journal-title":"Anesthesiology"},{"key":"BFejhg2010248_CR8","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1034\/j.1399-0004.2001.590306.x","volume":"59","author":"SL Stewart","year":"2001","unstructured":"Stewart SL, Hogan K, Rosenberg H, Fletcher JE : Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia. Clin Genet 2001; 59: 178\u2013184.","journal-title":"Clin Genet"},{"key":"BFejhg2010248_CR9","doi-asserted-by":"publisher","first-page":"1146","DOI":"10.1097\/00000542-200606000-00008","volume":"104","author":"MC Ibarra","year":"2006","unstructured":"Ibarra MC, Wu S, Murayama K et al: Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing. Anesthesiology 2006; 104: 1146\u20131154.","journal-title":"Anesthesiology"},{"key":"BFejhg2010248_CR10","doi-asserted-by":"publisher","first-page":"692","DOI":"10.1034\/j.1399-6576.2002.460610.x","volume":"46","author":"H Rueffert","year":"2002","unstructured":"Rueffert H, Olthoff D, Deutrich C et al: Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations. Acta Anaesthesiol Scand 2002; 46: 692\u2013698.","journal-title":"Acta Anaesthesiol Scand"},{"key":"BFejhg2010248_CR11","doi-asserted-by":"publisher","first-page":"590","DOI":"10.1002\/humu.20878","volume":"30","author":"S Levano","year":"2009","unstructured":"Levano S, Vukcevic M, Singer M et al: Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat 2009; 30: 590\u2013598.","journal-title":"Hum Mutat"},{"key":"BFejhg2010248_CR12","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1016\/j.jclinane.2007.12.011","volume":"20","author":"T Girard","year":"2008","unstructured":"Girard T, Litman RS : Molecular genetic testing to diagnose malignant hyperthermia susceptibility. J Clin Anesth 2008; 20: 161\u2013163.","journal-title":"J Clin Anesth"},{"key":"BFejhg2010248_CR13","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1177\/0310057X0803600302","volume":"36","author":"KM Stowell","year":"2008","unstructured":"Stowell KM, Pollock N : DNA analysis and malignant hyperthermia susceptibility. Anaesth Intensive Care 2008; 36: 305\u2013307.","journal-title":"Anaesth Intensive Care"},{"key":"BFejhg2010248_CR14","doi-asserted-by":"publisher","first-page":"1067","DOI":"10.1097\/00000542-200211000-00007","volume":"97","author":"N Monnier","year":"2002","unstructured":"Monnier N, Krivosic-Horber R, Payen JF et al: Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility. Anesthesiology 2002; 97: 1067\u20131074.","journal-title":"Anesthesiology"},{"key":"BFejhg2010248_CR15","first-page":"700","volume":"64","author":"H Ording","year":"1985","unstructured":"Ording H : Incidence of malignant hyperthermia in Denmark. Anesth Analg 1985; 64: 700\u2013704.","journal-title":"Anesth Analg"},{"key":"BFejhg2010248_CR16","doi-asserted-by":"publisher","first-page":"1162","DOI":"10.1213\/ane.0b013e3181ac1548","volume":"109","author":"JE Brady","year":"2009","unstructured":"Brady JE, Sun LS, Rosenberg H, Li G : Prevalence of malignant hyperthermia due to anesthesia in New York State, 2001\u20132005. Anesth Analg 2009; 109: 1162\u20131166.","journal-title":"Anesth Analg"},{"key":"BFejhg2010248_CR17","doi-asserted-by":"publisher","first-page":"955","DOI":"10.1111\/j.1399-6576.1997.tb04820.x","volume":"41","author":"H Ording","year":"1997","unstructured":"Ording H, Brancadoro V, Cozzolino S et al: In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH Group: results of testing patients surviving fulminant MH and unrelated low-risk subjects. The European Malignant Hyperthermia Group. Acta Anaesthesiol Scand 1997; 41: 955\u2013966.","journal-title":"Acta Anaesthesiol Scand"},{"key":"BFejhg2010248_CR18","doi-asserted-by":"publisher","first-page":"771","DOI":"10.1097\/00000542-199404000-00008","volume":"80","author":"MG Larach","year":"1994","unstructured":"Larach MG, Localio AR, Allen GC et al: A clinical grading scale to predict malignant hyperthermia susceptibility. Anesthesiology 1994; 80: 771\u2013779.","journal-title":"Anesthesiology"},{"key":"BFejhg2010248_CR19","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1097\/ACO.0b013e328337ffe0","volume":"23","author":"F Wappler","year":"2010","unstructured":"Wappler F : Anesthesia for patients with a history of malignant hyperthermia. Curr Opin Anaesthesiol 2010; 23: 417\u2013422.","journal-title":"Curr Opin Anaesthesiol"},{"key":"BFejhg2010248_CR20","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1186\/1750-1172-2-21","volume":"2","author":"H Rosenberg","year":"2007","unstructured":"Rosenberg H, Davis M, James D et al: Malignant hyperthermia. Orphanet J Rare Dis 2007; 2: 21.","journal-title":"Orphanet J Rare Dis"},{"key":"BFejhg2010248_CR21","doi-asserted-by":"publisher","first-page":"2918","DOI":"10.1001\/jama.293.23.2918","volume":"293","author":"RS Litman","year":"2005","unstructured":"Litman RS, Rosenberg H : Malignant hyperthermia: update on susceptibility testing. JAMA 2005; 293: 2918\u20132924.","journal-title":"JAMA"},{"key":"BFejhg2010248_CR22","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1016\/j.nmd.2009.12.005","volume":"20","author":"H Zhou","year":"2010","unstructured":"Zhou H, Lillis S, Loy RE et al: Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord 2010; 20: 166\u2013173.","journal-title":"Neuromuscul Disord"},{"key":"BFejhg2010248_CR23","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1002\/ana.22119","volume":"68","author":"JM Wilmshurst","year":"2010","unstructured":"Wilmshurst JM, Lillis S, Zhou H et al: RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol 2010; 68: 717\u2013726.","journal-title":"Ann Neurol"},{"key":"BFejhg2010248_CR24","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1016\/j.coph.2008.01.005","volume":"8","author":"S Treves","year":"2008","unstructured":"Treves S, Jungbluth H, Muntoni F, Zorzato F : Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. Curr Opin Pharmacol 2008; 8: 319\u2013326.","journal-title":"Curr Opin Pharmacol"},{"key":"BFejhg2010248_CR25","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1002\/humu.10098","volume":"20","author":"RL Robinson","year":"2002","unstructured":"Robinson RL, Brooks C, Brown SL et al: RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes. Hum Mutat 2002; 20: 88\u201397.","journal-title":"Hum Mutat"},{"key":"BFejhg2010248_CR26","doi-asserted-by":"publisher","first-page":"538","DOI":"10.1093\/bja\/aep204","volume":"103","author":"D Carpenter","year":"2009","unstructured":"Carpenter D, Robinson RL, Quinnell RJ et al: Genetic variation in RYR1and malignant hyperthermia phenotypes. Br J Anaesth 2009; 103: 538\u2013548.","journal-title":"Br J Anaesth"},{"key":"BFejhg2010248_CR27","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1042\/BJ20051282","volume":"395","author":"S Ducreux","year":"2006","unstructured":"Ducreux S, Zorzato F, Ferreiro A et al: Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes. Biochem J 2006; 395: 259\u2013266.","journal-title":"Biochem J"},{"key":"BFejhg2010248_CR28","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1213\/00000539-198910000-00015","volume":"69","author":"MG Larach","year":"1989","unstructured":"Larach MG : Standardization of the caffeine halothane muscle contracture test. North American Malignant Hyperthermia Group. Anesth Analg 1989; 69: 511\u2013515.","journal-title":"Anesth Analg"},{"key":"BFejhg2010248_CR29","unstructured":"Rosenberg H, Dirksen RA, Sambuughin N : Malignant hyperthermia susceptibility; in Baskin P, Pagan R (ed): GeneReviews, \n                    http:\/\/www.genetests.org\n                    \n                  ."}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2010248.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2010248","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2010248.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:01:11Z","timestamp":1684429271000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2010248"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,1,19]]},"references-count":29,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2011,6]]}},"alternative-id":["BFejhg2010248"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2010.248","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,1,19]]}}}