{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T10:15:35Z","timestamp":1768904135679,"version":"3.49.0"},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2009,7,30]],"date-time":"2009-07-30T00:00:00Z","timestamp":1248912000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Department of Health Pharmacogenetics Research Grant Programme"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2009,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In this study we present 3 families with malignant hyperthermia (MH), all of Indian subcontinent descent. One individual from each of these families was fully sequenced for <jats:italic>RYR1<\/jats:italic> and presented with the non\u2010synonymous change c.11315G&gt;A\/p.R3772Q. When present in the homozygous state c.11315*A is associated with myopathic symptoms. Muscle Nerve, 2009<\/jats:p>","DOI":"10.1002\/mus.21397","type":"journal-article","created":{"date-parts":[[2009,7,30]],"date-time":"2009-07-30T18:57:03Z","timestamp":1248980223000},"page":"633-639","source":"Crossref","is-referenced-by-count":21,"title":["A <i>RYR1<\/i> mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families"],"prefix":"10.1002","volume":"40","author":[{"given":"Danielle","family":"Carpenter","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Azzam","family":"Ismail","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rachel L.","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"Ringrose","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Booms","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David E.","family":"Iles","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. Jane","family":"Halsall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Derek","family":"Steele","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010Anne","family":"Shaw","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philip M.","family":"Hopkins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,7,30]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20356"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.coph.2008.01.005"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1080\/15216540601187803"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/bja\/83.2.217"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm096"},{"key":"e_1_2_6_7_2","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1096\/fj.05-4497fje","article-title":"Heat\u2010 and anesthesia\u2010induced malignant hyperthermia in an RyR1 knock\u2010in mouse","volume":"20","author":"Chelu MG","year":"2005","journal-title":"FASEB"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(72)92854-1"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1097\/00000542-200612000-00016"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1862346"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.59.2.284"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10231"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20051282"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.21397","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.21397","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.21397","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T02:09:12Z","timestamp":1697162952000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.21397"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,7,30]]},"references-count":12,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,10]]}},"alternative-id":["10.1002\/mus.21397"],"URL":"https:\/\/doi.org\/10.1002\/mus.21397","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,7,30]]}}}