{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T05:21:42Z","timestamp":1791091302007,"version":"4.1.0"},"reference-count":34,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":2769,"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":[[2008,5]]},"DOI":"10.1002\/humu.20696","type":"journal-article","created":{"date-parts":[[2008,2,5]],"date-time":"2008-02-05T09:54:50Z","timestamp":1202205290000},"page":"670-678","source":"Crossref","is-referenced-by-count":101,"title":["Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores"],"prefix":"10.1155","volume":"29","author":[{"given":"Nicole","family":"Monnier","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Marty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Faure","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Castiglioni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Desnuelle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Sacconi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Estournet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Ferreiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norma","family":"Romero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie","family":"Laquerriere","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leila","family":"Lazaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Jacques","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Morava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annick","family":"Rossi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anneke","family":"Van der Kooi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"de Visser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corien","family":"Verschuuren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00ebl","family":"Lunardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,2,1]]},"reference":[{"key":"10.1002\/humu.20696-BIB1|cit1","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":"2000","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.20696-BIB2|cit2","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":"12","author":"Davis","year":"2003","journal-title":"Neuromuscul Disord"},{"key":"10.1002\/humu.20696-BIB3|cit3","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1016\/S0960-8966(02)00002-0","article-title":"Central core disease","volume":"12","author":"De Cauwer","year":"2002","journal-title":"Neuromuscul Disord"},{"key":"10.1002\/humu.20696-BIB4|cit4","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 Ca(2+) release channels?","volume":"12","author":"Dirksen","year":"2002","journal-title":"Trends Cardiovasc Med"},{"key":"10.1002\/humu.20696-BIB5|cit5","doi-asserted-by":"crossref","first-page":"31760","DOI":"10.1074\/jbc.M102751200","article-title":"Functional characterization of mutants in the predicted pore region of the rabbit cardiac muscle Ca(2+) release channel (ryanodine receptor isoform 2)","volume":"276","author":"Du","year":"2001","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20696-BIB6|cit6","doi-asserted-by":"crossref","first-page":"16725","DOI":"10.1073\/pnas.012688999","article-title":"Topology 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.20696-BIB7|cit7","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1042\/BJ20051282","article-title":"Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multiminicore disease and central core disease, expressed in immortalized lymphocytes","volume":"395","author":"Ducreux","year":"2006","journal-title":"Biochem J"},{"key":"10.1002\/humu.20696-BIB8|cit8","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/S0079-6107(02)00013-5","article-title":"Interactions between dihydropyridine receptors and ryanodine receptors in striated muscles","volume":"79","author":"Dulhunty","year":"2002","journal-title":"Prog Biophys Mol Biol"},{"key":"10.1002\/humu.20696-BIB9|cit9","first-page":"1267","article-title":"A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility","volume":"56","author":"European Malignant Hyperpyrexia Group","year":"1994","journal-title":"Br J Anaesth"},{"key":"10.1002\/humu.20696-BIB10|cit10","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1002\/1531-8249(200011)48:5<745::AID-ANA8>3.0.CO;2-F","article-title":"Multi-minicore disease searching for boundaries: phenotype analysis of 38 cases","volume":"48","author":"Ferreiro","year":"2000","journal-title":"Ann Neurol"},{"key":"10.1002\/humu.20696-BIB11|cit11","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1086\/342719","article-title":"Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies","volume":"71","author":"Ferreiro","year":"2002a","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20696-BIB12|cit12","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":"2002b","journal-title":"Ann. Neurol"},{"key":"10.1002\/humu.20696-BIB13|cit13","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.20696-BIB14|cit14","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1002\/humu.9442","article-title":"Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia","volume":"27","author":"Galli","year":"2006","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.20696-BIB15|cit15","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1038\/nrm2104","article-title":"The highways and byways of mRNA decay","volume":"8","author":"Garneau","year":"2007","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1002\/humu.20696-BIB16|cit16","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1177\/08830738050200020201","article-title":"Congenital myopathies in the new millennium","volume":"20","author":"Goebel","year":"2005","journal-title":"J Child Neurol"},{"key":"10.1002\/humu.20696-BIB17|cit17","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":"10.1002\/humu.20696-BIB18|cit18","doi-asserted-by":"crossref","first-page":"1930","DOI":"10.1212\/01.wnl.0000188870.37076.f2","article-title":"Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene","volume":"65","author":"Jungbluth","year":"2005","journal-title":"Neurology"},{"key":"10.1002\/humu.20696-BIB19|cit19","doi-asserted-by":"crossref","first-page":"2189","DOI":"10.1093\/hmg\/ddi223","article-title":"Altered mRNA splicing of the skeletal muscle ryanodyne 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.20696-BIB20|cit20","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1042\/BJ20060686","article-title":"A variably spliced region in the type 1 ryanodine receptor may participate in an inter-domain interaction","volume":"401","author":"Kimura","year":"2007","journal-title":"Biochem J"},{"key":"10.1002\/humu.20696-BIB21|cit21","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1002\/mus.20715","article-title":"Central core disease due to recessive mutations in RYR1 gene: is it more common than described?","volume":"35","author":"Kossugue","year":"2007","journal-title":"Muscle Nerve"},{"key":"10.1002\/humu.20696-BIB22|cit22","doi-asserted-by":"crossref","first-page":"6994","DOI":"10.1074\/jbc.M312446200","article-title":"Negatively charged amino acids within the intraluminal loop of ryanodine receptor are involved in the interaction with triadin","volume":"279","author":"Lee","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20696-BIB23|cit23","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":"10.1002\/humu.20696-BIB24|cit24","doi-asserted-by":"crossref","first-page":"8206","DOI":"10.1074\/jbc.275.11.8206","article-title":"Cloning and characterization of a new isoform of skeletal muscle triadin","volume":"275","author":"Marty","year":"1994","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20696-BIB25|cit25","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.20696-BIB26|cit26","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":"10","author":"Monnier","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.20696-BIB27|cit27","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/hmg\/ddg121","article-title":"A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with MmD congenital myopathy with ophthalmoplegia","volume":"12","author":"Monnier","year":"2003","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.20696-BIB28|cit28","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.20696-BIB29|cit29","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1002\/humu.20356","article-title":"Mutations in RYR1 in malignant hyperthermia and central core disease","volume":"27","author":"Robinson","year":"2006","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.20696-BIB30|cit30","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":"26","author":"Romero","year":"2003","journal-title":"Brain"},{"key":"10.1002\/humu.20696-BIB31|cit31","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":"10.1002\/humu.20696-BIB32|cit32","doi-asserted-by":"crossref","first-page":"1470","DOI":"10.1093\/brain\/awl077","article-title":"Central core disease is due to RYR1 mutations in more than 90% of patients","volume":"129","author":"Wu","year":"2006","journal-title":"Brain"},{"key":"10.1002\/humu.20696-BIB33|cit33","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1086\/508500","article-title":"Epigenetics allelic silencing unveils recessive RYR1 mutations in core myopathies","volume":"79","author":"Zhou","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20696-BIB34|cit34","doi-asserted-by":"crossref","first-page":"2024","DOI":"10.1093\/brain\/awm096","article-title":"Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies","volume":"130","author":"Zhou","year":"2007","journal-title":"Brain"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.20696","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.20696","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T11:51:34Z","timestamp":1672314694000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.20696"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,2,1]]},"references-count":34,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2008,5]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.20696","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.1116744.572815","asserted-by":"object"}]},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2008,2,1]]}}}