{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T05:35:31Z","timestamp":1792042531151,"version":"4.4.0"},"reference-count":122,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":3257,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2006,10]]},"DOI":"10.1002\/humu.20356","type":"journal-article","created":{"date-parts":[[2006,8,17]],"date-time":"2006-08-17T20:49:23Z","timestamp":1155847763000},"page":"977-989","source":"Crossref","is-referenced-by-count":459,"title":["Mutations in\n                    <i>RYR1<\/i>\n                    in malignant hyperthermia and central core disease"],"prefix":"10.1155","volume":"27","author":[{"given":"Rachel","family":"Robinson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"Carpenter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Anne","family":"Shaw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Halsall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Hopkins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"10.1002\/humu.20356-BIB1","first-page":"833","article-title":"The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree","volume":"60","author":"Adeokun","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20356-BIB2","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1111\/j.1399-0004.1995.tb04311.x","article-title":"A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility","volume":"47","author":"Alestrom","year":"1995","journal-title":"Clin Genet"},{"key":"10.1002\/humu.20356-BIB3","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":"10.1002\/humu.20356-BIB4","doi-asserted-by":"crossref","first-page":"4215","DOI":"10.1073\/pnas.071048198","article-title":"Excitation-contraction 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":"10.1002\/humu.20356-BIB5","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-contraction uncoupling in central core disease","volume":"121","author":"Avila","year":"2003","journal-title":"J Gen Physiol"},{"key":"10.1002\/humu.20356-BIB6","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.ceca.2004.08.001","article-title":"Intracellular Ca2+ dynamics in malignant hyperthermia and central core disease: established concepts, new cellular mechanisms involved","volume":"37","author":"Avila","year":"2005","journal-title":"Cell Calcium"},{"key":"10.1002\/humu.20356-BIB7","first-page":"115","article-title":"Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families","volume":"36","author":"Barone","year":"1999","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20356-BIB8","doi-asserted-by":"crossref","first-page":"2055","DOI":"10.1093\/hmg\/8.11.2055","article-title":"Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test","volume":"8","author":"Brandt","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.20356-BIB9","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1093\/bja\/83.6.855","article-title":"Malignant hyperthermia causing Gly2435Arg mutation of the ryanodine receptor facilitates ryanodine-induced calcium release in myotubes","volume":"83","author":"Brinkmeier","year":"1999","journal-title":"Br J Anaesth"},{"key":"10.1002\/humu.20356-BIB10","doi-asserted-by":"crossref","first-page":"1515","DOI":"10.1093\/hmg\/9.10.1515","article-title":"A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree","volume":"9","author":"Brown","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.20356-BIB11","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1093\/oxfordjournals.bja.a013478","article-title":"Malignant hyperthermia in infancy and identification of a novel RYR1 mutation","volume":"4","author":"Chamley","year":"2000","journal-title":"Br J Anaesth"},{"key":"10.1002\/humu.20356-BIB12","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1096\/fj.05-4497fje","article-title":"Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse","volume":"20","author":"Chelu","year":"2006","journal-title":"FASEB J"},{"key":"10.1002\/humu.20356-BIB13","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1002\/path.1648","article-title":"Congenital myopathies: diseases of the actin cytoskeleton","volume":"204","author":"Clarkson","year":"2004","journal-title":"J Pathol"},{"key":"10.1002\/humu.20356-BIB14","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1093\/bja\/83.2.217","article-title":"Segregation of malignant hyperthermia, central core disease and chromosome 19 markers","volume":"83","author":"Curran","year":"1999","journal-title":"Br J Anaesth"},{"key":"10.1002\/humu.20356-BIB15","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":"10.1002\/humu.20356-BIB16","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/S0960-8966(02)00218-3","article-title":"Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene","volume":"13","author":"Davis","year":"2003","journal-title":"Neuromuscul Disord"},{"key":"10.1002\/humu.20356-BIB17","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/S0140-6736(60)92690-8","article-title":"Anaesthetic deaths in a family","volume":"ii","author":"Denborough","year":"1960","journal-title":"Lancet"},{"key":"10.1002\/humu.20356-BIB18","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":"BMJ"},{"key":"10.1002\/humu.20356-BIB19","first-page":"1334","article-title":"Discordance in a malignant hyperthermia pedigree between in vitro contracture test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2 comprising the C1840\u2009T transition in the RYR1 gene","volume":"56","author":"Deufel","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20356-BIB20","doi-asserted-by":"crossref","first-page":"3193","DOI":"10.1529\/biophysj.104.048447","article-title":"Distinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RYR1","volume":"87","author":"Dirksen","year":"2004","journal-title":"Biophys J"},{"key":"10.1002\/humu.20356-BIB21","doi-asserted-by":"crossref","first-page":"43838","DOI":"10.1074\/jbc.M403612200","article-title":"Effect of ryanodine receptor mutations on IL-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia susceptible individuals and patients affected by central core disease","volume":"279","author":"Ducreux","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20356-BIB22","doi-asserted-by":"crossref","first-page":"16725","DOI":"10.1073\/pnas.012688999","article-title":"Toplogy of the Ca2+ release channel of skeletal muscle sarcoplasmic reticulum (RYR1)","volume":"99","author":"Du","year":"2002","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.20356-BIB23","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1113\/jphysiol.2002.022749","article-title":"Effects of Mg2+ and SR luminal Ca2+ on caffeine-induced Ca2+ release in skeletal muscle from humans susceptible to malignant hyperthermia","volume":"544","author":"Duke","year":"2002","journal-title":"J Physiol"},{"key":"10.1002\/humu.20356-BIB24","doi-asserted-by":"crossref","first-page":"1339","DOI":"10.1097\/00000542-200412000-00014","article-title":"Mg2+-dependence of halothane-induced Ca2+ release from the sarcoplasmic reticulum in skeletal muscle from humans susceptible to malignant hyperthermia","volume":"101","author":"Duke","year":"2004","journal-title":"Anesthesiology"},{"key":"10.1002\/humu.20356-BIB25","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1111\/j.1399-0004.1994.tb04406.x","article-title":"Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia","volume":"46","author":"Fagerlund","year":"1994","journal-title":"Clin Genet"},{"key":"10.1002\/humu.20356-BIB26","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1111\/j.1399-0004.1995.tb04047.x","article-title":"A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia","volume":"48","author":"Fagerlund","year":"1995","journal-title":"Clin Genet"},{"key":"10.1002\/humu.20356-BIB27","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1111\/j.1399-0004.1996.tb03284.x","article-title":"RYR1 mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility","volume":"49","author":"Fagerlund","year":"1996","journal-title":"Clin Genet"},{"key":"10.1002\/humu.20356-BIB28","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 C1840\u2009T in two Scandinavian MH families exhibiting this mutation","volume":"52","author":"Fagerlund","year":"1997","journal-title":"Clin Genet"},{"key":"10.1002\/humu.20356-BIB29","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":"10.1002\/humu.20356-BIB30","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1086\/342719","article-title":"Mutations in the selenoprotein N gene, which is implicated in rigid spine and muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies","volume":"71","author":"Ferreiro","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20356-BIB31","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1097\/00000542-200208000-00010","article-title":"Results of contracture tests with halothane, caffeine and ryanodine depend on different malignant hyperthermia associated ryanodine receptor gene mutations","volume":"97","author":"Fiege","year":"2002","journal-title":"Anesthesiology"},{"key":"10.1002\/humu.20356-BIB32","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":"10.1002\/humu.20356-BIB33","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1093\/bja\/75.3.307","article-title":"Genotype and phenotype relationships for mutations in the ryanodine receptor in patients referred for diagnosis of malignant hyperthermia","volume":"75","author":"Fletcher","year":"1995","journal-title":"Br J Anaesth"},{"key":"10.1002\/humu.20356-BIB34","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1038\/sj.ejhg.5200428","article-title":"Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family","volume":"8","author":"Fortunato","year":"2000","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.20356-BIB35","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":"10.1002\/humu.20356-BIB36","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1042\/bj3050373","article-title":"Tissue-specific and developmentally regulated alternative splicing in mouse skeletal muscle ryanodine receptor mRNA","volume":"305","author":"Futatsugi","year":"1995","journal-title":"Biochem J"},{"key":"10.1002\/humu.20356-BIB37","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/S0143-4160(02)00138-0","article-title":"Mutations in the RYR1 gene in Italian patients at risk for Malignant Hyperthermia: evidence for a cluster of novel mutations in the C-terminal region","volume":"32","author":"Galli","year":"2002","journal-title":"Cell Calcium"},{"key":"10.1002\/humu.20356-BIB38","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1016\/0888-7543(91)90084-R","article-title":"A substitution of cysteine for argentine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia","volume":"11","author":"Gillard","year":"1991","journal-title":"Genomics"},{"key":"10.1002\/humu.20356-BIB39","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1016\/0888-7543(92)90042-Q","article-title":"Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia","volume":"13","author":"Gillard","year":"1992","journal-title":"Genomics"},{"key":"10.1002\/humu.20356-BIB40","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1002\/humu.1203","article-title":"Genotype-phenotype comparison of the Swiss malignant hyperthermia population. Mutation in Brief #449. Online","volume":"18","author":"Girard","year":"2001","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.20356-BIB41","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 characterisation","volume":"61","author":"Guis","year":"2004","journal-title":"Arch Neurol"},{"key":"10.1002\/humu.20356-BIB42","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1007\/BF00197703","article-title":"Assignment of the gene for central core disease to chromosome 19","volume":"86","author":"Haan","year":"1990","journal-title":"Hum Genet"},{"key":"10.1002\/humu.20356-BIB43","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1002\/humu.1380020418","article-title":"No C1840 to T mutation in malignant hyperthermia","volume":"2","author":"Hall-Curran","year":"1993","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.20356-BIB44","first-page":"157","volume-title":"Hyperthermic and hypermetabolic disorders","author":"Halsall","year":"1996"},{"key":"10.1002\/humu.20356-BIB45","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1213\/00000539-199209000-00022","article-title":"A cysteine-for-argenine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia","volume":"75","author":"Hogan","year":"1992","journal-title":"Anesth Analg"},{"key":"10.1002\/humu.20356-BIB46","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1093\/bja\/85.1.118","article-title":"Malignant hyperthermia: advances in clinical management and diagnosis","volume":"85","author":"Hopkins","year":"2000","journal-title":"Br J Anaesth"},{"key":"10.1002\/humu.20356-BIB47","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":"10.1002\/humu.20356-BIB48","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1212\/WNL.59.2.284","article-title":"Autosomal recessive inheritance of RYR1 mutations in congenital myopathy with cores","volume":"59","author":"Jungbluth","year":"2002","journal-title":"Neurology"},{"key":"10.1002\/humu.20356-BIB49","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/S1090-3798(02)00136-8","article-title":"What's new in neuromuscular disorders? The congenital myopathies","volume":"7","author":"Jungbluth","year":"2003","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1002\/humu.20356-BIB50","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/S0031-3955(16)38700-4","article-title":"Malignant hyperthermia","volume":"41","author":"Kaus","year":"1994","journal-title":"Pediatr Clin North Am"},{"key":"10.1002\/humu.20356-BIB51","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":"10.1002\/humu.20356-BIB52","doi-asserted-by":"crossref","first-page":"2189","DOI":"10.1093\/hmg\/ddi223","article-title":"Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic\/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1","volume":"14","author":"Kimura","year":"2005","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.20356-BIB53","doi-asserted-by":"crossref","first-page":"6580","DOI":"10.1074\/jbc.M408375200","article-title":"Dantrolene stabilizes domain interactions within the ryanodine receptor","volume":"280","author":"Kobayashi","year":"2005","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20356-BIB54","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1111\/j.1365-2044.2004.03658.x","article-title":"Dantrolene: a review of its pharmacology, therapeutic use and new developments","volume":"59","author":"Krause","year":"2004","journal-title":"Anaesthesia"},{"key":"10.1002\/humu.20356-BIB55","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1111\/j.1469-7793.2001.0715h.x","article-title":"Different Ca2+ releasing action of caffeine and depolarisation in skeletal muscle fibers of the rat","volume":"531","author":"Lamb","year":"2001","journal-title":"J Physiol"},{"key":"10.1002\/humu.20356-BIB56","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1016\/S0888-7543(05)80152-1","article-title":"Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q","volume":"14","author":"Levitt","year":"1992","journal-title":"Genomics"},{"key":"10.1002\/humu.20356-BIB57","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1097\/00000542-200308000-00011","article-title":"Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript","volume":"99","author":"Loke","year":"2003","journal-title":"Anesthesiology"},{"key":"10.1002\/humu.20356-BIB58","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1097\/00000542-199703000-00014","article-title":"Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred","volume":"86","author":"Lynch","year":"1997","journal-title":"Anesthesiology"},{"key":"10.1002\/humu.20356-BIB59","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 calcium release channel function and severe central core disease","volume":"96","author":"Lynch","year":"1999","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.20356-BIB60","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":"10.1002\/humu.20356-BIB61","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1002\/(SICI)1098-1004(1998)11:1<45::AID-HUMU7>3.0.CO;2-K","article-title":"Novel mutations at a CpG dinucleotide in the ryanodine receptor gene in malignant hyperthermia","volume":"11","author":"Manning","year":"1998","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.20356-BIB62","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":"10.1002\/humu.20356-BIB63","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":"10.1002\/humu.20356-BIB64","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":"342","author":"McCarthy","year":"1990","journal-title":"Nature"},{"key":"10.1002\/humu.20356-BIB65","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":"10.1002\/humu.20356-BIB66","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1034\/j.1399-0004.2002.620111.x","article-title":"Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia","volume":"62","author":"McWilliams","year":"2002","journal-title":"Clin Genet"},{"key":"10.1002\/humu.20356-BIB67","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1152\/physrev.1996.76.2.537","article-title":"Malignant hyperthermia: excitation-contraction coupling, Ca2+ release channel, and cell Ca2+ regulation defects","volume":"76","author":"Mickelson","year":"1996","journal-title":"Physiol Rev"},{"key":"10.1002\/humu.20356-BIB68","doi-asserted-by":"crossref","first-page":"1316","DOI":"10.1086\/515454","article-title":"Malignant-hyperthermia susceptibility is associated with a mutation of the alpha1-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":"10.1002\/humu.20356-BIB69","doi-asserted-by":"crossref","first-page":"2599","DOI":"10.1093\/hmg\/9.18.2599","article-title":"An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal\/muscle ryanodine receptor","volume":"9","author":"Monnier","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.20356-BIB70","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":"22","author":"Monnier","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.20356-BIB71","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1097\/00000542-200211000-00007","article-title":"Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility","volume":"97","author":"Monnier","year":"2002","journal-title":"Anesthesiology"},{"key":"10.1002\/humu.20356-BIB72","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 opthalmoplegia","volume":"12","author":"Monnier","year":"2003","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.20356-BIB73","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1002\/humu.20231","article-title":"Correlations between genotype and pharmacological, histological, functional and clinical phenotypes in malignant hyperthermia susceptibility","volume":"26","author":"Monnier","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.20356-BIB74","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/S0022-510X(97)00215-3","article-title":"Gly341Arg mutation indicating malignant hyperthermia susceptibility: specific cause of chronically elevated serum creatine kinase activity","volume":"154","author":"Monsieurs","year":"1998","journal-title":"J Neurol Sci"},{"key":"10.1002\/humu.20356-BIB75","doi-asserted-by":"crossref","first-page":"C358","DOI":"10.1152\/ajpcell.1989.256.2.C358","article-title":"Ca2+-induced-Ca2+ release in malignant hyperthermia-susceptible pig skeletal muscle","volume":"256","author":"Ohta","year":"1989","journal-title":"Am J Physiol"},{"key":"10.1002\/humu.20356-BIB76","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1254\/jjp.88.159","article-title":"Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia","volume":"88","author":"Oyamada","year":"2002","journal-title":"Jpn J Pharmacology"},{"key":"10.1002\/humu.20356-BIB77","doi-asserted-by":"crossref","first-page":"34918","DOI":"10.1074\/jbc.M205487200","article-title":"Identification of the dantrolene binding sequence on the skeletal muscle ryanodine receptor","volume":"277","author":"Paul-Pletzer","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20356-BIB78","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1006\/geno.1996.0238","article-title":"The structural organisation of the ryanodine receptor (RYR1) gene","volume":"34","author":"Phillips","year":"1996","journal-title":"Genomics"},{"key":"10.1002\/humu.20356-BIB79","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":"10.1002\/humu.20356-BIB80","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1093\/hmg\/3.3.471","article-title":"Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies","volume":"3","author":"Quane","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.20356-BIB81","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1006\/geno.1994.1483","article-title":"Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores","volume":"23","author":"Quane","year":"1994","journal-title":"Genomics"},{"key":"10.1002\/humu.20356-BIB82","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1093\/bja\/79.3.332","article-title":"Detection of a novel mutation at amino acid 614 in the ryanodine receptor in malignant hyperthermia","volume":"79","author":"Quane","year":"1997","journal-title":"Br J Anaesth"},{"key":"10.1002\/humu.20356-BIB83","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":"10.1002\/humu.20356-BIB84","doi-asserted-by":"crossref","first-page":"5256","DOI":"10.1074\/jbc.272.8.5256","article-title":"Functional characterisation of distinct ryanodine receptor mutation in human malignant hyperthermia susceptible muscle","volume":"272","author":"Richter","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20356-BIB85","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1093\/hmg\/6.6.953","article-title":"A genome-wide search for susceptibility loci in two European malignant hyperthermia pedigrees","volume":"6","author":"Robinson","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.20356-BIB86","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1046\/j.1469-1809.2000.6440307.x","article-title":"Multiple interacting gene products may influence susceptibility to malignant hyperthermia","volume":"64","author":"Robinson","year":"2000","journal-title":"Ann Hum Genet"},{"key":"10.1002\/humu.20356-BIB87","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1002\/humu.10098","article-title":"RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes","volume":"20","author":"Robinson","year":"2002","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.20356-BIB88","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1038\/sj.ejhg.5200964","article-title":"Recent advance in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing?","volume":"11","author":"Robinson","year":"2003","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.20356-BIB89","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1007\/s00439-002-0864-6","article-title":"Several Interacting genes influence the malignant hyperthermia phenotype","volume":"112","author":"Robinson","year":"2003","journal-title":"Hum Genet"},{"key":"10.1002\/humu.20356-BIB90","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":"10.1002\/humu.20356-BIB91","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1002\/humu.15","article-title":"Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia. Mutation and Polymorphism Report #219. Online","volume":"17","author":"Rueffert","year":"2001","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.20356-BIB92","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1034\/j.1399-6576.2002.460610.x","article-title":"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","volume":"46","author":"Rueffert","year":"2002","journal-title":"Acta Anaesthesiol Scand"},{"key":"10.1002\/humu.20356-BIB93","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"},{"key":"10.1002\/humu.20356-BIB94","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1086\/321270","article-title":"Single amino acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype","volume":"69","author":"Sambuughin","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20356-BIB95","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1016\/S0960-8966(01)00202-4","article-title":"Identification and functional characterisation of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families","volume":"11","author":"Sambuughin","year":"2001","journal-title":"Neuromuscul Disord"},{"key":"10.1002\/humu.20356-BIB96","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1097\/00000542-200109000-00009","article-title":"North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations","volume":"95","author":"Sambuughin","year":"2001","journal-title":"Anesthesiology"},{"key":"10.1002\/humu.20356-BIB97","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1097\/00000542-200503000-00007","article-title":"Screening the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the North American population","volume":"102","author":"Sambuughin","year":"2005","journal-title":"Anesthesiology"},{"key":"10.1002\/humu.20356-BIB98","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":"10.1002\/humu.20356-BIB99","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1006\/geno.1993.1302","article-title":"Multipoint mapping of the central core disease locus","volume":"17","author":"Schwemmle","year":"1993","journal-title":"Genomics"},{"key":"10.1002\/humu.20356-BIB100","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1097\/00000542-200410000-00005","article-title":"Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene","volume":"101","author":"Sei","year":"2004","journal-title":"Anesthesiology"},{"key":"10.1002\/humu.20356-BIB101","doi-asserted-by":"crossref","first-page":"e33","DOI":"10.1136\/jmg.2003.014274","article-title":"RYR1 Mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene","volume":"41","author":"Shepherd","year":"2004","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20356-BIB102","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":"10.1002\/humu.20356-BIB103","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1007\/s00210-002-0593-3","article-title":"Evidence for spontaneous 1840C>T mutation in the RYR1 gene after DNA fingerprinting in a malignant hyperthermia susceptible family","volume":"366","author":"Steinfath","year":"2002","journal-title":"Arch Pharmacol"},{"key":"10.1002\/humu.20356-BIB104","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1034\/j.1399-0004.1998.5440417.x","article-title":"Failure to identify the ryanodine receptor G1021A mutation in a large North American population with malignant hyperthermia","volume":"54","author":"Stewart","year":"1998","journal-title":"Clin Genet"},{"key":"10.1002\/humu.20356-BIB105","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1213\/00000539-199308000-00014","article-title":"Malignant hyperthermia: a review of published cases","volume":"772","author":"Strazis","year":"1993","journal-title":"Anesth Analg"},{"key":"10.1002\/humu.20356-BIB106","doi-asserted-by":"crossref","first-page":"2402","DOI":"10.1016\/S0006-3495(98)77684-2","article-title":"Voltage-dependent calcium release in human malignant hyperthermia muscle fibers","volume":"75","author":"Struk","year":"1998","journal-title":"Biophys J"},{"key":"10.1002\/humu.20356-BIB107","first-page":"684","article-title":"Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1","volume":"3","author":"Sudbrak","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20356-BIB108","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1373\/49.5.761","article-title":"Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles","volume":"49","author":"Tammaro","year":"2003","journal-title":"Clin Chem"},{"key":"10.1002\/humu.20356-BIB109","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":"10.1002\/humu.20356-BIB110","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1001\/jama.286.2.168","article-title":"Malignant hyperthermia and apparent heat stroke","volume":"286","author":"Tobin","year":"2001","journal-title":"JAMA"},{"key":"10.1002\/humu.20356-BIB111","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":"10.1002\/humu.20356-BIB112","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":"10.1002\/humu.20356-BIB113","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1016\/j.nmd.2005.06.008","article-title":"Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders","volume":"15","author":"Treves","year":"2005","journal-title":"Neuromusc Disord"},{"key":"10.1002\/humu.20356-BIB114","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1093\/bja\/86.2.283","article-title":"Guidelines for the molecular detection of susceptibility to malignant hyperthermia","volume":"86","author":"Urwyler","year":"2001","journal-title":"Br J Anaesth"},{"key":"10.1002\/humu.20356-BIB115","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1097\/00000542-200404000-00007","article-title":"Histomorphologic examination of skeletal muscle preparations does not differentiate between malignant hyperthermia-susceptible and -normal patients","volume":"100","author":"von Breunig","year":"2004","journal-title":"Anesthesiology"},{"key":"10.1002\/humu.20356-BIB116","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 (C6617\u2009T) mutation","volume":"62","author":"Wehner","year":"2002","journal-title":"Clin Genet"},{"key":"10.1002\/humu.20356-BIB117","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1016\/j.nmd.2004.03.011","article-title":"Functional characterisation of malignant hyperthermia-associated RYR1 mutations in exon 44, using the human myotube model","volume":"14","author":"Wehner","year":"2004","journal-title":"Neuromusc Disord"},{"key":"10.1002\/humu.20356-BIB118","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-contraction coupling","volume":"278","author":"Yang","year":"2003","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20356-BIB119","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1213\/01.ANE.0000180214.74580.39","article-title":"Denaturing high performance liquid chromatography screening of ryanodine receptor type 1 gene in patients with malignant hyperthermia in Taiwan and identification of a novel mutation (Y522C)","volume":"101","author":"Yeh","year":"2005","journal-title":"Anesth Analg"},{"key":"10.1002\/humu.20356-BIB120","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":"10.1002\/humu.20356-BIB121","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":"10.1002\/humu.20356-BIB122","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1093\/hmg\/ddg032","article-title":"Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor","volume":"12","author":"Zorzato","year":"2003","journal-title":"Hum Mol Gent"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.20356","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.20356","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,5]],"date-time":"2024-02-05T20:19:57Z","timestamp":1707164397000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.20356"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,10]]},"references-count":122,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2006,10]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.20356","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,10]]}}}