{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T10:41:02Z","timestamp":1774953662936,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,10,21]],"date-time":"2014-10-21T00:00:00Z","timestamp":1413849600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:p>Malignant hyperthermia (<jats:styled-content style=\"fixed-case\">MH<\/jats:styled-content>)\u2010related mutations have been identified in the ryanodine receptor type 1 gene (<jats:italic><jats:styled-content style=\"fixed-case\">RYR1<\/jats:styled-content><\/jats:italic>) and in the dihydropyridine gene (<jats:italic><jats:styled-content style=\"fixed-case\">CACNA1S<\/jats:styled-content><\/jats:italic>), but about half of the patients do not have causative mutations in these genes. We wanted to study the contribution of other muscle genes to the <jats:italic><jats:styled-content style=\"fixed-case\">RYR1<\/jats:styled-content><\/jats:italic> phenotypes. We designed a gene panel for sequence enrichment targeting 64 genes of proteins involved in the homeostasis of the striated muscle cell. Next\u2010generation sequencing (<jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>) resulted in &gt;50,000 sequence variants which were further analyzed by software filtering criteria to identify causative variants. In four of five patients we identified previously reported <jats:italic><jats:styled-content style=\"fixed-case\">RYR1<\/jats:styled-content><\/jats:italic> mutations while the fifth patient did not show any candidate variant in any of the genes investigated. In two patients pathogenic variants were found in other genes known to cause a muscle disorders. All but one patient carried likely benign rare polymorphisms. The <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content> technique proved convenient in identifying variants in the <jats:italic><jats:styled-content style=\"fixed-case\">RYR1<\/jats:styled-content><\/jats:italic>. However, with a clinically variable phenotype\u2010like <jats:styled-content style=\"fixed-case\">MH<\/jats:styled-content>, the pre\u2010selection of genes poses problems in variant interpretation.<\/jats:p>","DOI":"10.1111\/cge.12508","type":"journal-article","created":{"date-parts":[[2014,9,25]],"date-time":"2014-09-25T19:37:36Z","timestamp":1411673856000},"page":"381-385","source":"Crossref","is-referenced-by-count":14,"title":["Next\u2010generation <scp>DNA<\/scp> sequencing of a Swedish malignant hyperthermia cohort"],"prefix":"10.1111","volume":"88","author":[{"given":"M.","family":"Broman","sequence":"first","affiliation":[{"name":"Department of Perioperative and Intensive Care Sk\u00e5ne University Hospital  Lund Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Kleinschnitz","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Biocentre, University of W\u00fcrzburg  Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.E.","family":"Bach","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Biocentre, University of W\u00fcrzburg  Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Rost","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Biocentre, University of W\u00fcrzburg  Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Islander","sequence":"additional","affiliation":[{"name":"Department of Perioperative and Intensive Care Sk\u00e5ne University Hospital  Lund Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.R.","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Biocentre, University of W\u00fcrzburg  Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,10,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/bja\/85.1.118"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/pan.12224"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20356"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-10-104"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/bja\/aes341"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/ALN.0b013e3182a8a998"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-117"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/bja\/aep204"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1213\/ANE.0b013e31828a71ff"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.118.3.277"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.2.693"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00936.x"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.3.211"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35243"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(94)90080-9"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/324412"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergencyto.2008.10.007"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1206605"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000542-199404000-00008"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12508","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12508","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T06:23:35Z","timestamp":1696400615000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12508"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,10,21]]},"references-count":19,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,10]]}},"alternative-id":["10.1111\/cge.12508"],"URL":"https:\/\/doi.org\/10.1111\/cge.12508","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,10,21]]}}}