{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T12:14:13Z","timestamp":1791029653601,"version":"4.1.0"},"reference-count":100,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2004,10,1]],"date-time":"2004-10-01T00:00:00Z","timestamp":1096588800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biochemical and Biophysical Research Communications"],"published-print":{"date-parts":[[2004,10]]},"DOI":"10.1016\/j.bbrc.2004.08.031","type":"journal-article","created":{"date-parts":[[2004,8,31]],"date-time":"2004-08-31T13:27:23Z","timestamp":1093958843000},"page":"1256-1266","source":"Crossref","is-referenced-by-count":44,"title":["Dynamic alterations in myoplasmic Ca2+ in malignant hyperthermia and central core disease"],"prefix":"10.1016","volume":"322","author":[{"given":"Alla D.","family":"Lyfenko","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjeewa A.","family":"Goonasekera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert T.","family":"Dirksen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbrc.2004.08.031_bib1","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1038\/nrm1155","article-title":"Calcium signalling: dynamics, homeostasis and remodelling","volume":"4","author":"Berridge","year":"2003","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.bbrc.2004.08.031_bib2","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1038\/nrm1150","article-title":"Regulation of cell death: the calcium-apoptosis link","volume":"4","author":"Orrenius","year":"2003","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.bbrc.2004.08.031_bib3","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1038\/ncb1063","article-title":"Cytochrome c binds to inositol (1,4,5) trisphosphate receptors, amplifying calcium-dependent apoptosis","volume":"5","author":"Boehning","year":"2003","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.bbrc.2004.08.031_bib4","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1006\/scdb.2000.0211","article-title":"Calcium signalling\u2014an overview","volume":"12","author":"Bootman","year":"2001","journal-title":"Semin. Cell Dev. Biol."},{"key":"10.1016\/j.bbrc.2004.08.031_bib5","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1038\/ng0603-135","article-title":"When calcium goes wrong: genetic alterations of a ubiquitous signaling route","volume":"34","author":"Rizzuto","year":"2003","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbrc.2004.08.031_bib6","doi-asserted-by":"crossref","first-page":"659","DOI":"10.2741\/A802","article-title":"Bi-directional coupling between dihydropyridine receptors and ryanodine receptors","volume":"7","author":"Dirksen","year":"2002","journal-title":"Front. Biosci."},{"key":"10.1016\/j.bbrc.2004.08.031_bib7","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1038\/242244a0","article-title":"Voltage dependent charge movement of skeletal muscle: a possible step in excitation\u2013contraction coupling","volume":"242","author":"Schneider","year":"1973","journal-title":"Nature"},{"key":"10.1016\/j.bbrc.2004.08.031_bib8","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1038\/325717a0","article-title":"Involvement of dihydropyridine receptors in excitation\u2013contraction coupling in skeletal muscle","volume":"325","author":"Rios","year":"1987","journal-title":"Nature"},{"key":"10.1016\/j.bbrc.2004.08.031_bib9","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/0304-4157(94)00014-5","article-title":"The role of Ca2+ ions in excitation-contraction coupling of skeletal muscle fibres","volume":"1241","author":"Melzer","year":"1995","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbrc.2004.08.031_bib10","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1038\/380072a0","article-title":"Enhanced dihydropyridine receptor channel activity in the presence of ryanodine receptor","volume":"380","author":"Nakai","year":"1996","journal-title":"Nature"},{"key":"10.1016\/j.bbrc.2004.08.031_bib11","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1146\/annurev.ph.56.030194.002413","article-title":"Ryanodine receptor\/Ca2+ release channels and their regulation by endogenous effectors","volume":"56","author":"Meissner","year":"1994","journal-title":"Annu. Rev. Physiol."},{"key":"10.1016\/j.bbrc.2004.08.031_bib12","doi-asserted-by":"crossref","first-page":"2072","DOI":"10.2741\/A899","article-title":"Regulation of mammalian ryanodine receptors","volume":"7","author":"Meissner","year":"2002","journal-title":"Front. Biosci."},{"key":"10.1016\/j.bbrc.2004.08.031_bib13","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1016\/S0002-9343(98)00108-9","article-title":"Malignant hyperthermia and central core disease: disorders of Ca2+ release channels","volume":"104","author":"Loke","year":"1998","journal-title":"Am. J. Med."},{"key":"10.1016\/j.bbrc.2004.08.031_bib14","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1002\/(SICI)1097-4598(200001)23:1<4::AID-MUS3>3.0.CO;2-D","article-title":"Genetics and pathogenesis of malignant hyperthermia","volume":"23","author":"Jurkat-Rott","year":"2000","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.bbrc.2004.08.031_bib15","doi-asserted-by":"crossref","first-page":"1689","DOI":"10.1212\/WNL.55.11.1689","article-title":"A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy","volume":"55","author":"Scacheri","year":"2000","journal-title":"Neurology"},{"key":"10.1016\/j.bbrc.2004.08.031_bib16","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1002\/ana.10231","article-title":"A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene","volume":"51","author":"Ferreiro","year":"2002","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.bbrc.2004.08.031_bib17","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1007\/s00415-004-0220-y","article-title":"Adult onset multi\/minicore myopathy associated with a mutation in the RYR1 gene","volume":"251","author":"Pietrini","year":"2004","journal-title":"J. Neurol."},{"key":"10.1016\/j.bbrc.2004.08.031_bib18","unstructured":"J.D. Lueck, S.A. Goonasekera, R.T. Dirksen, Ryanodinopathies: muscle disorders linked to mutations in ryanodine receptors, Basics Appl. Myol. (2004) (in press)"},{"key":"10.1016\/j.bbrc.2004.08.031_bib19","article-title":"Anaesthetic deaths in a family","volume":"45","author":"Denborough","year":"1960","journal-title":"Lancet"},{"key":"10.1016\/j.bbrc.2004.08.031_bib20","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1016\/S0140-6736(98)03078-5","article-title":"Malignant hyperthermia","volume":"352","author":"Denborough","year":"1998","journal-title":"Lancet"},{"key":"10.1016\/j.bbrc.2004.08.031_bib21","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1111\/j.1365-2044.2004.03658.x","article-title":"Dantrolene\u2014a review of its pharmacology, therapeutic use and new developments","volume":"59","author":"Krause","year":"2004","journal-title":"Anaesthesia"},{"key":"10.1016\/j.bbrc.2004.08.031_bib22","doi-asserted-by":"crossref","first-page":"5291","DOI":"10.1046\/j.1432-1327.2000.01566.x","article-title":"Ca2+ signalling and muscle disease","volume":"267","author":"MacLennan","year":"2000","journal-title":"Eur. J. Biochem."},{"key":"10.1016\/j.bbrc.2004.08.031_bib23","doi-asserted-by":"crossref","first-page":"347","DOI":"10.2174\/1566524023362429","article-title":"Malignant hyperthermia: a pharmacogenetic disease of Ca++ regulating proteins","volume":"2","author":"Nelson","year":"2002","journal-title":"Curr. Mol. Med."},{"key":"10.1016\/j.bbrc.2004.08.031_bib24","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1007\/BF03004694","article-title":"Malignant hyperthermia: a statistical review","volume":"17","author":"Britt","year":"1970","journal-title":"Can. Anaesth. Soc. J."},{"key":"10.1016\/j.bbrc.2004.08.031_bib25","first-page":"111","article-title":"Investigation of malignant hyperthermia susceptibility in Denmark","volume":"43","author":"Ording","year":"1996","journal-title":"Dan. Med. Bull."},{"key":"10.1016\/j.bbrc.2004.08.031_bib26","first-page":"638","article-title":"A new screening test for susceptibility to malignant hyperpyrexia","volume":"45","author":"Ellis","year":"1973","journal-title":"Br. J. Anaesth."},{"key":"10.1016\/j.bbrc.2004.08.031_bib27","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1213\/00000539-198910000-00015","article-title":"Standardization of the caffeine halothane muscle contracture test. north american malignant hyperthermia group","volume":"69","author":"Larach","year":"1989","journal-title":"Anesth. Analg."},{"key":"10.1016\/j.bbrc.2004.08.031_bib28","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1136\/bmj.2.5525.1305","article-title":"Unusual reaction to suxamethonium chloride","volume":"2","author":"Hall","year":"1966","journal-title":"Br. Med. J."},{"key":"10.1016\/j.bbrc.2004.08.031_bib29","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/0888-7543(90)90278-3","article-title":"Assignment of the porcine calcium release channel gene, a candidate for the malignant hyperthermia locus, to the 6p11\u2013q21 segment of chromosome 6","volume":"8","author":"Harbitz","year":"1990","journal-title":"Genomics"},{"key":"10.1016\/j.bbrc.2004.08.031_bib30","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1126\/science.1862346","article-title":"Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia","volume":"253","author":"Fujii","year":"1991","journal-title":"Science"},{"key":"10.1016\/j.bbrc.2004.08.031_bib31","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1111\/j.1399-0004.1990.tb03506.x","article-title":"A linkage study of malignant hyperthermia (MH)","volume":"37","author":"Bender","year":"1990","journal-title":"Clin. Genet."},{"key":"10.1016\/j.bbrc.2004.08.031_bib32","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1038\/343559a0","article-title":"Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia","volume":"343","author":"MacLennan","year":"1990","journal-title":"Nature"},{"key":"10.1016\/j.bbrc.2004.08.031_bib33","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":"10.1016\/j.bbrc.2004.08.031_bib34","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1093\/hmg\/3.6.969","article-title":"Localization of the gene encoding the alpha 2\/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families","volume":"3","author":"Iles","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbrc.2004.08.031_bib35","first-page":"684","article-title":"Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1","volume":"56","author":"Sudbrak","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbrc.2004.08.031_bib36","doi-asserted-by":"crossref","first-page":"1316","DOI":"10.1086\/515454","article-title":"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","volume":"60","author":"Monnier","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbrc.2004.08.031_bib37","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1002\/(SICI)1096-8628(19980226)76:1<21::AID-AJMG3>3.0.CO;2-S","article-title":"Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree","volume":"76","author":"Moslehi","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.bbrc.2004.08.031_bib38","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1097\/00000542-200109000-00026","article-title":"Autosomal dominant canine malignant hyperthermia is caused by a mutation in the gene encoding the skeletal muscle calcium release channel (RYR1)","volume":"95","author":"Roberts","year":"2001","journal-title":"Anesthesiology"},{"key":"10.1016\/j.bbrc.2004.08.031_bib39","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1093\/brain\/79.4.610","article-title":"A new congenital non-progressive myopathy","volume":"79","author":"Shy","year":"1956","journal-title":"Brain"},{"key":"10.1016\/j.bbrc.2004.08.031_bib40","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":"10.1016\/j.bbrc.2004.08.031_bib41","doi-asserted-by":"crossref","first-page":"2341","DOI":"10.1093\/brain\/awg244","article-title":"Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia","volume":"126","author":"Romero","year":"2003","journal-title":"Brain"},{"key":"10.1016\/j.bbrc.2004.08.031_bib42","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1016\/S0960-8966(02)00135-9","article-title":"The spectrum of pathology in central core disease","volume":"12","author":"Sewry","year":"2002","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.bbrc.2004.08.031_bib43","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1136\/adc.88.12.1051","article-title":"Central core disease: clinical, pathological, and genetic features","volume":"88","author":"Quinlivan","year":"2003","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.bbrc.2004.08.031_bib44","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1097\/00005792-198709000-00004","article-title":"Central core disease. Clinical features in 13 patients","volume":"66","author":"Shuaib","year":"1987","journal-title":"Medicine"},{"key":"10.1016\/j.bbrc.2004.08.031_bib45","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1046\/j.1523-1755.2000.00917.x","article-title":"Calcium channelopathies","volume":"57","author":"Lorenzon","year":"2000","journal-title":"Kidney Int."},{"key":"10.1016\/j.bbrc.2004.08.031_bib46","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/S0140-6736(60)92665-9","article-title":"Oxidative enzymes and phosphorylase in central-core disease of muscle","volume":"2","author":"Dubowitz","year":"1960","journal-title":"Lancet"},{"key":"10.1016\/j.bbrc.2004.08.031_bib47","doi-asserted-by":"crossref","first-page":"481","DOI":"10.5858\/2004-128-481-PQCASA","article-title":"Pathologic quiz case: a slow and awkward child. Central core disease","volume":"128","author":"Giampetro","year":"2004","journal-title":"Arch. Pathol. Lab. Med."},{"key":"10.1016\/j.bbrc.2004.08.031_bib48","doi-asserted-by":"crossref","first-page":"2581","DOI":"10.1093\/hmg\/10.22.2581","article-title":"Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor","volume":"15","author":"Monnier","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbrc.2004.08.031_bib49","doi-asserted-by":"crossref","unstructured":"H. De Cauwer, L. Heytens, J.J. Martin, in: Workshop report of the 89th ENMC International Workshop: Central Core Disease, 19th\u201320th January 2001, Hilversum, The Netherlands, Neuromuscul. Disord., 12 (2002) 588\u2013595","DOI":"10.1016\/S0960-8966(02)00002-0"},{"key":"10.1016\/j.bbrc.2004.08.031_bib50","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1002\/mus.880120203","article-title":"Central core disease: ultrastructure of the sarcoplasmic reticulum and T-tubules","volume":"12","author":"Hayashi","year":"1989","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.bbrc.2004.08.031_bib51","doi-asserted-by":"crossref","first-page":"2339","DOI":"10.1093\/brain\/awg288","article-title":"Central core disease: new findings in an old disease","volume":"126","author":"Muntoni","year":"2003","journal-title":"Brain"},{"key":"10.1016\/j.bbrc.2004.08.031_bib52","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1093\/hmg\/ddg121","article-title":"A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia","volume":"12","author":"Monnier","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbrc.2004.08.031_bib53","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1001\/archneur.61.1.106","article-title":"Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization","volume":"61","author":"Guis","year":"2004","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.bbrc.2004.08.031_bib54","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1007\/BF00225410","article-title":"Scanning electron-microscopic studies on the three-dimensional structure of sarcoplasmic reticulum in the mammalian red, white and intermediate muscle fibers","volume":"242","author":"Ogata","year":"1985","journal-title":"Cell Tissue Res."},{"key":"10.1016\/j.bbrc.2004.08.031_bib55","first-page":"465","article-title":"The three-dimensional structure of motor endplates in different fiber types of rat intercostal muscle. A scanning electron-microscopic study","volume":"241","author":"Ogata","year":"1985","journal-title":"Cell Tissue Res."},{"key":"10.1016\/j.bbrc.2004.08.031_bib56","doi-asserted-by":"crossref","first-page":"3791","DOI":"10.1074\/jbc.M006209200","article-title":"Mitochondrial calcium oscillations in C2C12 myotubes","volume":"276","author":"Challet","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbrc.2004.08.031_bib57","doi-asserted-by":"crossref","first-page":"4647","DOI":"10.1074\/jbc.M006337200","article-title":"Alteration in calcium handling at the subcellular level in mdx myotubes","volume":"276","author":"Robert","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbrc.2004.08.031_bib58","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1113\/jphysiol.2002.036129","article-title":"Metabolic regulation of Ca2+ release in permeabilized mammalian skeletal muscle fibres","volume":"547","author":"Isaeva","year":"2003","journal-title":"J. Physiol."},{"key":"10.1016\/j.bbrc.2004.08.031_bib59","doi-asserted-by":"crossref","first-page":"1259","DOI":"10.1006\/jmcc.2002.2082","article-title":"Cardiac energy metabolism homeostasis: role of cytosolic calcium","volume":"34","author":"Balaban","year":"2002","journal-title":"J. Mol. Cell. Cardiol."},{"key":"10.1016\/j.bbrc.2004.08.031_bib60","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1085\/jgp.118.3.277","article-title":"Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor","volume":"118","author":"Avila","year":"2001","journal-title":"J. Gen. Physiol."},{"key":"10.1016\/j.bbrc.2004.08.031_bib61","doi-asserted-by":"crossref","first-page":"4215","DOI":"10.1073\/pnas.071048198","article-title":"Excitation\u2013contraction uncoupling by a human central core disease mutation in the ryanodine receptor","volume":"98","author":"Avila","year":"2001","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.bbrc.2004.08.031_bib62","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1085\/jgp.200308791","article-title":"The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation\u2013contraction uncoupling in central core disease","volume":"121","author":"Avila","year":"2003","journal-title":"J. Gen. Physiol."},{"key":"10.1016\/j.bbrc.2004.08.031_bib63","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1038\/ng0993-51","article-title":"Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia","volume":"5","author":"Quane","year":"1993","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbrc.2004.08.031_bib64","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1038\/ng0993-46","article-title":"A mutation in the human ryanodine receptor gene associated with central core disease","volume":"5","author":"Zhang","year":"1993","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbrc.2004.08.031_bib65","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/S1050-1738(02)00163-9","article-title":"Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca2+ release channels?","volume":"12","author":"Dirksen","year":"2002","journal-title":"Trends Cardiovasc. Med."},{"key":"10.1016\/j.bbrc.2004.08.031_bib66","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1136\/bmj.1.5848.272","article-title":"Central-core disease and malignant hyperpyrexia","volume":"1","author":"Denborough","year":"1973","journal-title":"Br. Med. J."},{"key":"10.1016\/j.bbrc.2004.08.031_bib67","doi-asserted-by":"crossref","first-page":"4164","DOI":"10.1073\/pnas.96.7.4164","article-title":"A mutation in the transmembrane\/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease","volume":"96","author":"Lynch","year":"1999","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.bbrc.2004.08.031_bib68","first-page":"1082","article-title":"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","volume":"46","author":"MacKenzie","year":"1990","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbrc.2004.08.031_bib69","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1016\/0888-7543(91)90461-M","article-title":"Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19","volume":"10","author":"Kausch","year":"1991","journal-title":"Genomics"},{"key":"10.1016\/j.bbrc.2004.08.031_bib70","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1002\/(SICI)1098-1004(200005)15:5<410::AID-HUMU2>3.0.CO;2-D","article-title":"Ryanodine receptor mutations in malignant hyperthermia and central core disease","volume":"15","author":"McCarthy","year":"2000","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbrc.2004.08.031_bib71","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1002\/ajmg.a.20404","article-title":"A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation","volume":"124","author":"Rueffert","year":"2004","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.bbrc.2004.08.031_bib72","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1017\/S0033583501003675","article-title":"Light at the end of the Ca(2+)-release channel tunnel: structures and mechanisms involved in ion translocation in ryanodine receptor channels","volume":"34","author":"Williams","year":"2001","journal-title":"Q. Rev. Biophys."},{"key":"10.1016\/j.bbrc.2004.08.031_bib73","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1152\/physrev.00013.2002","article-title":"Ryanodine receptor calcium release channels","volume":"82","author":"Fill","year":"2002","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.bbrc.2004.08.031_bib74","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1152\/physrev.1997.77.3.699","article-title":"Ryanodine receptors of striated muscles: a complex channel capable of multiple interactions","volume":"77","author":"Franzini-Armstrong","year":"1997","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.bbrc.2004.08.031_bib75","doi-asserted-by":"crossref","first-page":"2879","DOI":"10.1093\/hmg\/10.25.2879","article-title":"Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis","volume":"10","author":"Tilgen","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbrc.2004.08.031_bib76","first-page":"312","article-title":"Functional interactions of cytoplasmic domains of the skeletal muscle Ca2+ release channel","volume":"8","author":"Wu","year":"1998","journal-title":"TCM"},{"key":"10.1016\/j.bbrc.2004.08.031_bib77","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/S1050-1738(01)00067-6","article-title":"Postulated role of inter-domain interaction within the ryanodine receptor in Ca(2+) channel regulation","volume":"10","author":"Ikemoto","year":"2000","journal-title":"Trends Cardiovasc. Med."},{"key":"10.1016\/j.bbrc.2004.08.031_bib78","doi-asserted-by":"crossref","first-page":"3345","DOI":"10.1073\/pnas.96.7.3345","article-title":"Luminal loop of the ryanodine receptor: a pore-forming segment?","volume":"96","author":"Balshaw","year":"1999","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.bbrc.2004.08.031_bib79","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1007\/BF01960413","article-title":"Porcine skeletal muscle for physiological studies","volume":"35","author":"Gallant","year":"1979","journal-title":"Experientia"},{"key":"10.1016\/j.bbrc.2004.08.031_bib80","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1152\/ajpcell.1989.257.4.C781","article-title":"Halothane-sensitivity gene and muscle contractile properties in malignant hyperthermia","volume":"257","author":"Gallant","year":"1989","journal-title":"Am. J. Physiol."},{"key":"10.1016\/j.bbrc.2004.08.031_bib81","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1097\/00000542-199001000-00014","article-title":"Caffeine and halothane contracture testing in swine using the recommendations of the North American Malignant Hyperthermia Group","volume":"72","author":"Allen","year":"1990","journal-title":"Anesthesiology"},{"key":"10.1016\/j.bbrc.2004.08.031_bib82","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1002\/(SICI)1097-4598(199601)19:1<68::AID-MUS9>3.0.CO;2-6","article-title":"Porcine malignant hyperthermia: genotype and contractile threshold of immature muscles","volume":"19","author":"Gallant","year":"1996","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.bbrc.2004.08.031_bib83","first-page":"85","article-title":"[Ca2+]i in muscles of malignant hyperthermia susceptible pigs determined in vivo with Ca2+ selective microelectrodes","volume":"9","author":"Lopez","year":"1986","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.bbrc.2004.08.031_bib84","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1007\/BF00580861","article-title":"Fura-2 detected myoplasmic calcium and its correlation with contracture force in skeletal muscle from normal and malignant hyperthermia susceptible pigs","volume":"411","author":"Iaizzo","year":"1988","journal-title":"Pflugers Arch."},{"key":"10.1016\/j.bbrc.2004.08.031_bib85","doi-asserted-by":"crossref","first-page":"2244","DOI":"10.1016\/S0021-9258(19)39968-5","article-title":"Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum","volume":"265","author":"Zorzato","year":"1990","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbrc.2004.08.031_bib86","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1038\/343562a0","article-title":"Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2","volume":"343","author":"McCarthy","year":"1990","journal-title":"Nature"},{"key":"10.1016\/j.bbrc.2004.08.031_bib87","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1016\/S0140-6736(70)92069-6","article-title":"Metabolic error of muscle metabolism after recovery from malignant hyperthermia","volume":"2","author":"Kalow","year":"1970","journal-title":"Lancet"},{"key":"10.1016\/j.bbrc.2004.08.031_bib88","doi-asserted-by":"crossref","first-page":"83","DOI":"10.2220\/biomedres.4.83","article-title":"Changes in Ca2+-induced calcium release mechanism in the sarcoplasmic reticulum of the muscle from a patient with malignant hyperthermia","volume":"4","author":"Endoh","year":"1983","journal-title":"Biomed. Res."},{"key":"10.1016\/j.bbrc.2004.08.031_bib89","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1016\/S0006-3495(90)82563-7","article-title":"Abnormal ryanodine receptor channels in malignant hyperthermia","volume":"57","author":"Fill","year":"1990","journal-title":"Biophys. J."},{"key":"10.1016\/j.bbrc.2004.08.031_bib90","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1152\/physrev.1996.76.2.537","article-title":"Malignant hyperthermia: excitation\u2013contraction coupling, Ca2+ release channel, and cell Ca2+ regulation defects","volume":"76","author":"Mickelson","year":"1996","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.bbrc.2004.08.031_bib91","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1152\/ajpcell.1992.262.2.C422","article-title":"Excitation\u2013contraction coupling in pigs heterozygous for malignant hyperthermia","volume":"262","author":"Gallant","year":"1992","journal-title":"Am. J. Physiol."},{"key":"10.1016\/j.bbrc.2004.08.031_bib92","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1111\/j.1469-7793.2000.t01-1-00507.x","article-title":"Malignant hyperthermia mutation Arg615Cys in the porcine ryanodine receptor alters voltage dependence of Ca2+ release","volume":"526","author":"Dietze","year":"2000","journal-title":"J. Physiol."},{"key":"10.1016\/j.bbrc.2004.08.031_bib93","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1172\/JCI993","article-title":"Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors","volume":"101","author":"Censier","year":"1998","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.bbrc.2004.08.031_bib94","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1042\/bj3010661","article-title":"Alteration of intracellular Ca2+ transients in COS-7 cells transfected with the cDNA encoding skeletal-muscle ryanodine receptor carrying a mutation associated with malignant hyperthermia","volume":"301","author":"Treves","year":"1994","journal-title":"Biochem. J."},{"key":"10.1016\/j.bbrc.2004.08.031_bib95","doi-asserted-by":"crossref","first-page":"9413","DOI":"10.1016\/S0021-9258(17)36895-3","article-title":"The point mutation Arg615\u2192Cys in the Ca2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia","volume":"269","author":"Otsu","year":"1994","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbrc.2004.08.031_bib96","doi-asserted-by":"crossref","first-page":"26332","DOI":"10.1074\/jbc.272.42.26332","article-title":"Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and\/or central core disease","volume":"272","author":"Tong","year":"1997","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbrc.2004.08.031_bib97","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1074\/jbc.274.2.693","article-title":"Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels","volume":"274","author":"Tong","year":"1999","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbrc.2004.08.031_bib98","doi-asserted-by":"crossref","first-page":"25722","DOI":"10.1074\/jbc.M302165200","article-title":"Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation\u2013contraction coupling","volume":"278","author":"Yang","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbrc.2004.08.031_bib99","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1213\/00000539-199003000-00004","article-title":"Azumolene reverses episodes of malignant hyperthermia in susceptible swine","volume":"70","author":"Dershwitz","year":"1990","journal-title":"Anesth. Analg."},{"key":"10.1016\/j.bbrc.2004.08.031_bib100","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1016\/S0006-3495(00)76339-9","article-title":"Evidence for a role of the lumenal M3-M4 loop in skeletal muscle Ca(2+) release channel (ryanodine receptor) activity and conductance","volume":"79","author":"Gao","year":"2000","journal-title":"Biophys. J."}],"container-title":["Biochemical and Biophysical Research Communications"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006291X04017693?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006291X04017693?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,6,25]],"date-time":"2021-06-25T09:15:01Z","timestamp":1624612501000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0006291X04017693"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,10]]},"references-count":100,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2004,10]]}},"alternative-id":["S0006291X04017693"],"URL":"https:\/\/doi.org\/10.1016\/j.bbrc.2004.08.031","relation":{},"ISSN":["0006-291X"],"issn-type":[{"value":"0006-291X","type":"print"}],"subject":[],"published":{"date-parts":[[2004,10]]}}}