{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T21:03:51Z","timestamp":1790283831431,"version":"4.1.0"},"reference-count":36,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2011,6,14]],"date-time":"2011-06-14T00:00:00Z","timestamp":1308009600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2011,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction:<\/jats:title><jats:p>Ryanodine receptor gene (<jats:italic>RYR1<\/jats:italic>) mutations have been associated with central core disease (CCD), multiminicore\/minicore\/multicore disease (MmD), and susceptibility to malignant hyperthermia (MH).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods:<\/jats:title><jats:p>Patients with muscle symptoms in adulthood, who had features compatible with CCD\/MmD, underwent clinical, histological, and genetic (<jats:italic>RYR1<\/jats:italic> and <jats:italic>SEPN1<\/jats:italic> genes) evaluations. Published cases of CCD and MmD with adult onset were also reviewed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>Eight patients fulfilled the criteria for further analysis. Five <jats:italic>RYR1<\/jats:italic> mutations, 4 of them unreported, were detected in 3 patients. Compound heterozygosity was proven in 1 case.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>To our knowledge, this is the only report of adult onset associated with recessive <jats:italic>RYR1<\/jats:italic> mutations and central core\/multiminicores on muscle biopsy. Although adult patients with CCD, MmD, and minimally symptomatic MH with abnormal muscle biopsy findings usually have a mild clinical course, differential diagnosis and carrier screening is crucial for prevention of potentially life\u2010threatening reactions to general anesthesia. Muscle Nerve 44: 102\u2013108, 2011<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.22009","type":"journal-article","created":{"date-parts":[[2011,6,15]],"date-time":"2011-06-15T09:58:37Z","timestamp":1308131917000},"page":"102-108","source":"Crossref","is-referenced-by-count":39,"title":["Dominant and recessive <i>RYR1<\/i> mutations in adults with core lesions and mild muscle symptoms"],"prefix":"10.1002","volume":"44","author":[{"given":"Sofia T.","family":"Duarte","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge","family":"Oliveira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ro\u015brio","family":"Santos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro","family":"Pereira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e2ndida","family":"Barroso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Concei\u00e7\u00e3o","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresinha","family":"Evangelista","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,6,14]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20356"},{"key":"e_1_2_6_3_2","first-page":"2","article-title":"Central core disease","author":"Jungbluth H","year":"2007","journal-title":"Orphanet J Rare Dis"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1086\/342719"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.59.2.284"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000188870.37076.f2"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg121"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10231"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.61.1.106"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1985.04060110086024"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1159\/000077658"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-31"},{"key":"e_1_2_6_13_2","first-page":"543","article-title":"Multicore disease","volume":"57","author":"Isaacs H","year":"1980","journal-title":"S Afr Med J"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4598(199703)20:3<367::AID-MUS17>3.0.CO;2-Y"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.74.9.1317"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-004-0220-y"},{"key":"e_1_2_6_17_2","unstructured":"2007 Saunders Elsevier Philadelphia V Dubowitz CA Sewry Muscle biopsy. 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