{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T17:00:46Z","timestamp":1791219646353,"version":"4.1.0"},"reference-count":38,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[1993,9,1]],"date-time":"1993-09-01T00:00:00Z","timestamp":746841600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[1993,9]]},"DOI":"10.1038\/ng0993-46","type":"journal-article","created":{"date-parts":[[2004,8,18]],"date-time":"2004-08-18T21:02:14Z","timestamp":1092862934000},"page":"46-50","source":"Crossref","is-referenced-by-count":263,"title":["A mutation in the human ryanodine receptor gene associated with central core disease"],"prefix":"10.1038","volume":"5","author":[{"given":"Yilin","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hai Shiene","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vijay K.","family":"Khanna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stella","family":"De Leon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael S.","family":"Phillips","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keith","family":"Schappert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beverley A.","family":"Britt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. Keith W.","family":"Brownell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David H.","family":"MacLennan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng099346_CR1","doi-asserted-by":"publisher","first-page":"610","DOI":"10.1093\/brain\/79.4.610","volume":"79","author":"GM Shy","year":"1956","unstructured":"Shy, G.M. & Magee, K.R. A new congenital non-progressive myopathy. Brain 79, 610\u2013621 (1956).","journal-title":"Brain"},{"key":"BFng099346_CR2","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1093\/brain\/102.3.581","volume":"102","author":"VH Patterson","year":"1979","unstructured":"Patterson, V.H., Hill, T.R., Fletcher, P.J. & Heron, J.R. Central core disease: clinical and pathological evidence within a family. Brain 102, 581\u2013594 (1979).","journal-title":"Brain"},{"key":"BFng099346_CR3","doi-asserted-by":"publisher","first-page":"648","DOI":"10.2106\/00004623-197557050-00011","volume":"57A","author":"PL Ramsey","year":"1975","unstructured":"Ramsey, P.L. & Hensinger, R.N. Congenital dislocation of the hip associated with central core disease. J. Bone joint Surg. 57A, 648\u2013651 (1975).","journal-title":"J. Bone joint Surg."},{"key":"BFng099346_CR4","doi-asserted-by":"publisher","first-page":"432","DOI":"10.1136\/jnnp.28.5.432","volume":"28","author":"V Dubowitz","year":"1965","unstructured":"Dubowitz, V. & Platts, M. Central core disease of muscle with focal wasting. J. Neurol. Neurosurg. Psychiatry. 28, 432\u2013437 (1965).","journal-title":"J. Neurol. Neurosurg. Psychiatry."},{"key":"BFng099346_CR5","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1097\/00005792-198709000-00004","volume":"66","author":"A Shuaib","year":"1987","unstructured":"Shuaib, A., Paasuke, R.T. & Brownell, K.W. Central core disease: clinical features in 13 patients. Medicine 66, 389\u2013396 (1987).","journal-title":"Medicine"},{"key":"BFng099346_CR6","first-page":"1528","volume-title":"Myology","author":"BQ Banker","year":"1986","unstructured":"Banker, B.Q. Congenital myopathies. in Myology (eds Engel, A. G. & Banker, B.Q.) 1528\u20131536 (McGraw Hill, New York, 1986)."},{"key":"BFng099346_CR7","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1001\/archneur.1978.00500280007002","volume":"35","author":"GD Eng","year":"1978","unstructured":"Eng, G.D., Epstein, B.S., Engel, W.K., McKay, D.W. & McKay, R. Malignant hyperthermia and central core disease in a child with congenital dislocating hips. Arch. Neurol. 35, 189\u2013197 (1978).","journal-title":"Arch. Neurol."},{"key":"BFng099346_CR8","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1136\/bmj.1.5848.272","volume":"1","author":"MA Denborough","year":"1973","unstructured":"Denborough, M.A., Dennett, X. & Anderson, R. Central core disease and malignant hyperpyrexia. Br. med. J. 1, 272\u2013273 (1973).","journal-title":"Br. med. J."},{"key":"BFng099346_CR9","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1002\/ana.410070105","volume":"7","author":"JP Frank","year":"1980","unstructured":"Frank, J.P., Harati, Y., Butler, I.J., Nelson, T.E. & Scott, C.I. Central core disease and malignant hyperthermia syndrome. Ann. Neurol. 7, 11\u201317 (1980).","journal-title":"Ann. Neurol."},{"key":"BFng099346_CR10","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1093\/bja\/60.3.303","volume":"60","author":"AKW Brownell","year":"1988","unstructured":"Brownell, A.K.W. Malignant hyperthermia: relationship to other diseases. Br. J. Anaesth. 60, 303\u2013308 (1988).","journal-title":"Br. J. Anaesth."},{"key":"BFng099346_CR11","doi-asserted-by":"publisher","first-page":"448","DOI":"10.1126\/science.1862346","volume":"253","author":"J Fujii","year":"1991","unstructured":"Fujii, J. et al. Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. Science 253, 448\u2013451 (1991).","journal-title":"Science"},{"key":"BFng099346_CR12","doi-asserted-by":"publisher","first-page":"744","DOI":"10.1016\/0888-7543(91)90083-Q","volume":"11","author":"K Otsu","year":"1991","unstructured":"Otsu, K., Khanna, V.K., Archibald, A.L. & MacLennan, D.H. Co-segregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross famillies. Genomics 11, 744\u2013750 (1991).","journal-title":"Genomics"},{"key":"BFng099346_CR13","doi-asserted-by":"publisher","first-page":"751","DOI":"10.1016\/0888-7543(91)90084-R","volume":"11","author":"EF Gillard","year":"1991","unstructured":"Gillard, E.F. et al. A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. Genomics 11, 751\u2013755 (1991).","journal-title":"Genomics"},{"key":"BFng099346_CR14","doi-asserted-by":"publisher","first-page":"1247","DOI":"10.1016\/0888-7543(92)90042-Q","volume":"13","author":"EF Gillard","year":"1992","unstructured":"Gillard, E.F. et al. Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. Genomics 13, 1247\u20131254 (1992).","journal-title":"Genomics"},{"key":"BFng099346_CR15","first-page":"1082","volume":"46","author":"AE MacKenzie","year":"1990","unstructured":"MacKenzie, A.E. et al. The human ryanodine receptor gene: Its mapping to 19q13.1, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy. Am. J. hum. Genet. 46, 1082\u20131089 (1990).","journal-title":"Am. J. hum. Genet."},{"key":"BFng099346_CR16","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1007\/BF00197703","volume":"86","author":"EA Haan","year":"1990","unstructured":"Haan, E.A., Freemantle, C.J., McCure, J.A., Friend, K.L. & Mulley, J.C. Assignment of the gene for central core disease to chromosome 19. Hum. Genet. 86, 187\u2013190 (1990).","journal-title":"Hum. Genet."},{"key":"BFng099346_CR17","doi-asserted-by":"publisher","first-page":"765","DOI":"10.1016\/0888-7543(91)90461-M","volume":"10","author":"K Kausch","year":"1991","unstructured":"Kausch, K. et al. Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19. Genomics 10, 765\u2013769 (1991).","journal-title":"Genomics"},{"key":"BFng099346_CR18","first-page":"398","volume":"52","author":"JC Mulley","year":"1993","unstructured":"Mulley, J.C. et al. Refined genetic localization for central core disease. Am. J. hum. Genet. 52, 398\u2013405 (1993).","journal-title":"Am. J. hum. Genet."},{"key":"BFng099346_CR19","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1126\/science.239.4839.487","volume":"239","author":"RK Saiki","year":"1988","unstructured":"Saiki, R.K. et al. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239, 487\u2013491 (1988).","journal-title":"Science"},{"key":"BFng099346_CR20","doi-asserted-by":"crossref","first-page":"2244","DOI":"10.1016\/S0021-9258(19)39968-5","volume":"265","author":"F Zorzato","year":"1990","unstructured":"Zorzato, F. et al. Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum. J. biol. Chem. 265, 2244\u20132256 (1990).","journal-title":"J. biol. Chem."},{"key":"BFng099346_CR21","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1038\/339439a0","volume":"339","author":"H Takeshima","year":"1989","unstructured":"Takeshima, H. et al. Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor. Nature 339, 439\u2013445 (1989).","journal-title":"Nature"},{"key":"BFng099346_CR22","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., Phillips, M.S., Khanna, V.K., De Leon, S. & MacLennan, D.H. Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia. Genomics 13, 835\u2013837 (1992).","journal-title":"Genomics"},{"key":"BFng099346_CR23","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1097\/00000542-198604000-00010","volume":"64","author":"MP Walsh","year":"1986","unstructured":"Walsh, M.P., Brownell, A.K.W., Littmann, V. & Paasuke, R.T. Electrophoresis of muscle proteins is not a method for diagnosis of malignant hyperthermia susceptibility. Anesthesiology 64, 473\u2013479 (1986).","journal-title":"Anesthesiology"},{"key":"BFng099346_CR24","first-page":"53","volume-title":"Malignant Hyperthermia Current Concepts","author":"BA Britt","year":"1989","unstructured":"Britt, B.A., The North American Caffeine Halothane Contracture Test, in Malignant Hyperthermia Current Concepts (eds M. A. Nalda Felipe, S. Gottmann & H.J. Khambatta) 53\u201369 (Normed Verlag, Bad Homburg, 1989)."},{"key":"BFng099346_CR25","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1038\/343559a0","volume":"343","author":"DH MacLennan","year":"1990","unstructured":"MacLennan, D.H. et al. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. Nature 343, 559\u2013561 (1990).","journal-title":"Nature"},{"key":"BFng099346_CR26","doi-asserted-by":"publisher","first-page":"562","DOI":"10.1038\/343562a0","volume":"343","author":"TV McCarthy","year":"1990","unstructured":"McCarthy, T.V. et al. Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12\u201313.2. Nature 343, 562\u2013564 (1990).","journal-title":"Nature"},{"key":"BFng099346_CR27","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1213\/00000539-199209000-00022","volume":"75","author":"K Hogan","year":"1992","unstructured":"Hogan, K., Couch, F., Powers, P.A.R. & Gregg, R.G. A cysteine-for arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia. Anesth. Analg. 75, 441\u2013448 (1992).","journal-title":"Anesth. Analg."},{"key":"BFng099346_CR28","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1016\/0888-7543(91)90061-I","volume":"11","author":"RC Levitt","year":"1991","unstructured":"Levitt, R.C. et al. Evidence for genetic heterogeneity in malignant hyperthermia susceptibility. Genomics 11, 543\u2013547 (1991).","journal-title":"Genomics"},{"key":"BFng099346_CR29","first-page":"1151","volume":"50","author":"T Deufel","year":"1992","unstructured":"Deufel, T. et al. Evidence for genetic heterogeneity of malignant hyperthermia susceptibility. Am. J. hum. Genet. 50, 1151\u20131161 (1992).","journal-title":"Am. J. hum. Genet."},{"key":"BFng099346_CR30","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1038\/ng1092-87","volume":"2","author":"JH Caldwell","year":"1992","unstructured":"Caldwell, J.H. & Schaller, K.L. Opening the gates on ion channel disease. Nature Genet. 2, 87\u201389 (1992).","journal-title":"Nature Genet."},{"key":"BFng099346_CR31","doi-asserted-by":"crossref","first-page":"13472","DOI":"10.1016\/S0021-9258(18)77371-7","volume":"265","author":"K Otsu","year":"1990","unstructured":"Otsu, K., Willard, H.F., Khanna, V.K., Zorzato, F., Green, N.M. & MacLennan, D.H. Molecular cloning of cDNA encoding the Ca2+ release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum. J. biol. Chem. 265, 13472\u201313483 (1990).","journal-title":"J. biol. Chem."},{"key":"BFng099346_CR32","doi-asserted-by":"publisher","first-page":"789","DOI":"10.1126\/science.1589759","volume":"256","author":"DH MacLennan","year":"1992","unstructured":"MacLennan, D.H. & Phillips, M.S. Malignant hyperthermia. Science 256, 789\u2013794 (1992).","journal-title":"Science"},{"key":"BFng099346_CR33","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1146\/annurev.bi.56.070187.002143","volume":"56","author":"E Carafoli","year":"1987","unstructured":"Carafoli, E. Intracellular calcium homeostasis. A. Rev. Biochem. 56, 395\u2013433 (1987).","journal-title":"A. Rev. Biochem."},{"key":"BFng099346_CR34","doi-asserted-by":"publisher","first-page":"672","DOI":"10.1016\/S0140-6736(76)92781-1","volume":"1","author":"K Wrogemann","year":"1976","unstructured":"Wrogemann, K. & Pena, S.D.J. Mitochondrial calcium overload: a general mechanism for cell necrosis in muscle diseases. Lancet 1, 672\u2013673 (1976).","journal-title":"Lancet"},{"key":"BFng099346_CR35","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","volume":"16","author":"SA Miller","year":"1988","unstructured":"Miller, S.A., Dykes, S.D. & Polesky, H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl. Acids Res. 16, 1215 (1988).","journal-title":"Nucl. Acids Res."},{"key":"BFng099346_CR36","doi-asserted-by":"publisher","first-page":"156","DOI":"10.1016\/0003-2697(87)90021-2","volume":"162","author":"P Chomczynski","year":"1987","unstructured":"Chomczynski, P. & Sacchi, N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem. 162, 156\u2013159 (1987).","journal-title":"Anal. Biochem."},{"key":"BFng099346_CR37","first-page":"9719","volume":"86","author":"AM Wang","year":"1989","unstructured":"Wang, A.M., Doyle, M.V. & Mark, D.F. Quantitation of mRNA by the polymerase chain reaction. Proc. natn. Acad. Sci. U.S.A. 86, 9719\u20139721 (1989).","journal-title":"Proc. natn. Acad. Sci. U.S.A."},{"key":"BFng099346_CR38","first-page":"528","volume":"28","author":"J Ott","year":"1976","unstructured":"Ott, J. A computer program for linkage analysis of general human pedigrees. Am. J. hum. Genet. 28, 528\u2013529 (1976).","journal-title":"Am. J. hum. Genet."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0993-46","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0993-46.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0993-46.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:57:34Z","timestamp":1684443454000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0993-46"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,9]]},"references-count":38,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1993,9]]}},"alternative-id":["BFng099346"],"URL":"https:\/\/doi.org\/10.1038\/ng0993-46","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,9]]}}}