{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T09:49:32Z","timestamp":1760608172372},"reference-count":32,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[1995,1,1]],"date-time":"1995-01-01T00:00:00Z","timestamp":788918400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Mol Med"],"published-print":{"date-parts":[[1995,1]]},"DOI":"10.1007\/bf00203617","type":"journal-article","created":{"date-parts":[[2004,8,31]],"date-time":"2004-08-31T08:13:08Z","timestamp":1093939988000},"page":"35-40","source":"Crossref","is-referenced-by-count":11,"title":["C1840-T mutation in the human skeletal muscle ryanodine receptor gene: frequency in northern German families susceptible to malignant hyperthermia and the relationship to in vitro contracture response"],"prefix":"10.1007","volume":"73","author":[{"given":"M.","family":"Steinfath","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Singh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Scholz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Becker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Lenzen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Wappler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"K\u00f6chling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Roewer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Schulte am Esch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[1995,1,1]]},"reference":[{"key":"BF00203617_CR1","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1136\/jmg.30.2.89","volume":"30","author":"SP Ball","year":"1993","unstructured":"Ball SP, Johnson KJ (1993) The genetics of malignant hyperthermia. J Med Genet 30:89\u201393","journal-title":"J Med Genet"},{"key":"BF00203617_CR2","first-page":"19","volume-title":"Malignant hyperthermia. Current concepts","author":"BA Britt","year":"1989","unstructured":"Britt BA (1989) Heriditary and epidemiological aspects of malignant hyperthermia. In: Nalda Felipe MA, Gottmann S, Khambatta HJ (ed) Malignant hyperthermia. Current concepts. Normed, Englewood, pp 19\u201339"},{"key":"BF00203617_CR3","first-page":"179","volume-title":"Thermoregulation","author":"BA Britt","year":"1991","unstructured":"Britt BA (1991) Malignant hyperthermia. Pathology, pharmacology and therapy In: Schonbaum E, Lomax P (ed) Thermoregulation. Pergamon Press, New York, pp 179\u2013292"},{"key":"BF00203617_CR4","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1007\/BF03004694","volume":"17","author":"BA Britt","year":"1970","unstructured":"Britt BA, Kalow W (1970) Malignant hyperthermia: a statistical review. Can Anaesth Soc J 17:293\u2013315","journal-title":"Can Anaesth Soc J"},{"key":"BF00203617_CR5","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1097\/00000542-198710000-00018","volume":"67","author":"JB Carroll","year":"1987","unstructured":"Carroll JB (1987) Increased incidence of masseter spasm in children with strabismus anesthetized with halothane and succinylcholine. Anesthesiology 67:559\u2013561","journal-title":"Anesthesiology"},{"key":"BF00203617_CR6","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1016\/0163-7258(80)90023-6","volume":"9","author":"MA Denborough","year":"1980","unstructured":"Denborough MA (1980) The pathopharmacology of malignant hyperpyrexia. Pharma Ther 9:357\u2013365","journal-title":"Pharma Ther"},{"key":"BF00203617_CR7","first-page":"1151","volume":"50","author":"T Deufel","year":"1992","unstructured":"Deufel T, Golla A, Iles D, Meidl A, Meitinger T, Schindelhauer D, DeVries A, Pongratz D, MacLennan DH, Johnson KJ, Lehmann-Horn F (1992) Evidence for genetic heterogeneity of malignant hyperthermia susceptibility. Am J Hum Genet 50:1151\u20131161","journal-title":"Am J Hum Genet"},{"key":"BF00203617_CR8","first-page":"721","volume":"43","author":"FR Ellis","year":"1971","unstructured":"Ellis FR, Harriman DGF, Keaney NP, Kyei-Mensah K, Tyrrell JH (1971) Halothane-induced muscle contracture as a cause of hyperpyrexia. Br J Anaesth 43:721\u2013722","journal-title":"Br J Anaesth"},{"key":"BF00203617_CR9","doi-asserted-by":"publisher","first-page":"809","DOI":"10.1111\/j.1365-2044.1986.tb13122.x","volume":"41","author":"FR Ellis","year":"1986","unstructured":"Ellis FR, Halsall P, Harriman DGF (1986) The work of the Leeds Malignant Hyperpyrexia Investigation Unit, 1971\u20131984. Anaesthesia 41:809\u2013815","journal-title":"Anaesthesia"},{"key":"BF00203617_CR10","doi-asserted-by":"publisher","first-page":"1267","DOI":"10.1093\/bja\/56.11.1267","volume":"56","author":"European Malignant Hyperpyrexia Group","year":"1984","unstructured":"European Malignant Hyperpyrexia Group (1984) A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. Br J Anaesth 56:1267\u20131269","journal-title":"Br J Anaesth"},{"key":"BF00203617_CR11","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1111\/j.1399-0004.1992.tb03680.x","volume":"41","author":"T Fagerlund","year":"1992","unstructured":"Fagerlund T, Islander G, Ranklev E, Harbitz I, Hauge JG, Mokleby E, Berg K (1992) Genetic recombination between malignant hyperthermia and calcium release channel in skeletal muscle. Clin Genet 41:270\u2013272","journal-title":"Clin Genet"},{"key":"BF00203617_CR12","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1111\/j.1399-6576.1982.tb01795.x","volume":"26","author":"R Fletcher","year":"1982","unstructured":"Fletcher R, Blennow G, Olsson AK, Ranklev E, Tornebrant K (1982) Malignant hyperthermia in a myopathic child. Prolonged post-operative course requiring dantrolene. Acta Anaesth Scand 26:435\u2013438","journal-title":"Acta Anaesth Scand"},{"key":"BF00203617_CR13","doi-asserted-by":"publisher","first-page":"1217","DOI":"10.1016\/0020-711X(90)90301-I","volume":"22","author":"PS Foster","year":"1990","unstructured":"Foster PS (1990) Malignant hyperpyrexia. Int J Biochem 22:1217\u20131222","journal-title":"Int J Biochem"},{"key":"BF00203617_CR14","doi-asserted-by":"publisher","first-page":"448","DOI":"10.1126\/science.1862346","volume":"253","author":"J Fujii","year":"1991","unstructured":"Fujii J, Otsu K, Zorzato F, DeLeon S, Khanna VK, Weiler J, O'Brien PJ, MacLennan DH (1991) Identification of a mutation in the porcine ryanodine receptor that is associated with malignant hyperthermia. Science 253:448\u2013451","journal-title":"Science"},{"key":"BF00203617_CR15","doi-asserted-by":"publisher","first-page":"751","DOI":"10.1016\/0888-7543(91)90084-R","volume":"11","author":"EF Gillard","year":"1991","unstructured":"Gillard EF, Otsu K, Fujii J, Khanna VK, DeLeon S, Derdemezi J, Britt BA, Duff CL, Worton RG, MacLennan DH (1991) A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. Genomics 11:751\u2013755","journal-title":"Genomics"},{"key":"BF00203617_CR16","first-page":"1763","volume-title":"Myology. Basic and clinical","author":"GA Gronert","year":"1986","unstructured":"Gronert GA (1986) Malignant hyperthermia In: Engel AG, Banker BQ (ed) Myology. Basic and clinical. McGraw-Hill, New York, pp 1763\u20131784"},{"key":"BF00203617_CR17","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1093\/bja\/60.3.253","volume":"60","author":"GA Gronert","year":"1988","unstructured":"Gronert GA, Mott J, Lee J (1988) Aetiology of malignant hyperthermia. Br J Anaesth 60:253\u2013267","journal-title":"Br J Anaesth"},{"key":"BF00203617_CR18","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1016\/0888-7543(90)90278-3","volume":"8","author":"I Harbitz","year":"1990","unstructured":"Harbitz I, Chowdhary B, Thomsen P, Davies W, Kaufmann U, Kran S, Gustavsson I, Christensen K, Hauge J (1990) Assignment of the porcine calcium release channel gene, a candidate for the malignant hyperthermia locus, to the 6p11-q21 segment of chromosome 6. Genomics 8:243\u2013248","journal-title":"Genomics"},{"key":"BF00203617_CR19","doi-asserted-by":"publisher","first-page":"611","DOI":"10.1093\/bja\/66.5.611","volume":"66","author":"PM Hopkins","year":"1991","unstructured":"Hopkins PM, Ellis FR, Halsall PJ (1991) Ryanodine contracture: a potentially specific in vitro diagnostic test for malignant hyperthermia. Br. J. Anaesth. 66:611\u2013613","journal-title":"Br. J. Anaesth."},{"key":"BF00203617_CR20","doi-asserted-by":"publisher","first-page":"895","DOI":"10.1016\/S0140-6736(70)92069-6","volume":"II","author":"W Kalow","year":"1970","unstructured":"Kalow W, Britt BA, Terraeau ME, Haist C (1970) Metabolic error of muscle metabolism after recovery from malignant hyperthermia. Lancet II: 895\u2013898","journal-title":"Lancet"},{"key":"BF00203617_CR21","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1016\/0888-7543(91)90061-I","volume":"11","author":"JC Levitt","year":"1991","unstructured":"Levitt JC, Nouri N, Jedlicka AE, McKusick VA, Marks AR, Shutack JG, Fletcher JE, Rosenberg H, Meyers DA (1991) Evidence for genetic heterogeneity in malignant hyperthermia susceptibility. Genomics 11:543\u2013547","journal-title":"Genomics"},{"key":"BF00203617_CR22","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1038\/343559a0","volume":"343","author":"DH MacLennan","year":"1990","unstructured":"MacLennan DH, Duff C, Zorzato F, Fujii J, Phillips M, Korneluk RG, Frodis W, Britt BA, Worton RG (1990) Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. Nature 343:559\u2013561","journal-title":"Nature"},{"key":"BF00203617_CR23","doi-asserted-by":"publisher","first-page":"789","DOI":"10.1126\/science.1589759","volume":"256","author":"DH MacLennan","year":"1992","unstructured":"MacLennan DH, Phillips MS (1992) Malignant hyperthermia. Science 256:789\u2013794","journal-title":"Science"},{"key":"BF00203617_CR24","doi-asserted-by":"publisher","first-page":"562","DOI":"10.1038\/343562a0","volume":"343","author":"TV McCarthy","year":"1990","unstructured":"McCarthy TV, Healy S, Heffron JJA, Lehane M, Deufel T, Lehmann-Horn F, Farral M, Johnson K (1990) Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12\u201313,2. Nature 343:562\u2013563","journal-title":"Nature"},{"key":"BF00203617_CR25","doi-asserted-by":"publisher","first-page":"318","DOI":"10.1016\/0005-2736(86)90234-8","volume":"862","author":"JR Mickelson","year":"1986","unstructured":"Mickelson JR, Ross JA, Reed BK, Louis CF (1986) Enhanced Ca+ + induced calcium release by isolated sarcoplasmic reticulum vesicles from malignant hyperthermia susceptible pig muscle. Biophys Biochem Acta 862:318\u2013328","journal-title":"Biophys Biochem Acta"},{"key":"BF00203617_CR26","doi-asserted-by":"crossref","first-page":"9310","DOI":"10.1016\/S0021-9258(19)76541-7","volume":"263","author":"JR Mickelson","year":"1988","unstructured":"Mickelson JR, Gallant EM, Litterer LA, Johnson KM, Rempel WE, Louis CF (1988) Abnormal sarcoplasmic reticulum ryanodine receptor in malignant hyperthermia. J Biol Chem 263:9310\u20139315","journal-title":"J Biol Chem"},{"key":"BF00203617_CR27","first-page":"700","volume":"64","author":"H \u00d8rding","year":"1985","unstructured":"\u00d8rding H (1985) Incidence of malignant hyperthermia in Denmark. Anesth Analg 64:700\u2013704","journal-title":"Anesth Analg"},{"key":"BF00203617_CR28","doi-asserted-by":"publisher","first-page":"835","DOI":"10.1016\/0888-7543(92)90163-M","volume":"13","author":"K Otsu","year":"1992","unstructured":"Otsu K, Philips MS, Khanna V, DeLeon S, MacLennan DH (1992) Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia. Genomics 13:835\u2013837","journal-title":"Genomics"},{"key":"BF00203617_CR29","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1055\/s-2007-1000613","volume":"26","author":"N Roewer","year":"1991","unstructured":"Roewer N (1991) Maligne Hyperthermie heute. Anaesthesiol Intensivmed Notfallmed Schmerzther 26:431\u2013449","journal-title":"Anaesthesiol Intensivmed Notfallmed Schmerzther"},{"key":"BF00203617_CR30","first-page":"109","volume":"2","author":"S Singh","year":"1990","unstructured":"Singh S, Fang B, Fritze G, Agarwal D, Goedde HW (1990) Genotyping of alcohol dehydrogenase and aldehyde dehydrogenase in blood of koreans, Chinese, and Japanese by using PCR amplification and dot blot hybridization BTF 3. Adv Mol Genet 2:109\u2013119","journal-title":"Adv Mol Genet"},{"key":"BF00203617_CR31","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1038\/338167a0","volume":"338","author":"T Wagenknecht","year":"1989","unstructured":"Wagenknecht T, Grassucci R, Frank, Saito A, Inui M, Fleischer S (1989) Three-dimensional architecture of the calcium channel\/foot structure of sarcoplasmic reticulum. Nature 338:167\u2013170","journal-title":"Nature"},{"key":"BF00203617_CR32","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1093\/bja\/72.2.240","volume":"72","author":"F Wappler","year":"1994","unstructured":"Wappler F, Roewer N, Lenzen C, K\u00f6chling A, Scholz J, Steinfath M, Schulte am Esch J (1994) High-purity ryanodine and 9,21-dehydroryanodine for in vitro diagnosis of malignant hyperthermia in man. Br. J. Anaesth. 72:240\u2013242","journal-title":"Br. J. Anaesth."}],"container-title":["Journal of Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00203617.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00203617\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00203617.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00203617","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,25]],"date-time":"2021-06-25T09:07:13Z","timestamp":1624612033000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00203617"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,1]]},"references-count":32,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1995,1]]}},"alternative-id":["BF00203617"],"URL":"https:\/\/doi.org\/10.1007\/bf00203617","relation":{},"ISSN":["0946-2716","1432-1440"],"issn-type":[{"value":"0946-2716","type":"print"},{"value":"1432-1440","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,1]]}}}