{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T17:49:50Z","timestamp":1790876990698,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2011,10,25]],"date-time":"2011-10-25T00:00:00Z","timestamp":1319500800000},"content-version":"vor","delay-in-days":24,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2011,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The prevalence of congenital myopathies in the United States has not been examined. To address this, we determined the point prevalence of congenital myopathies in a well\u2010defined pediatric population from Southeastern Michigan. The overall point prevalence was 1:26,000. Mutations in <jats:italic>RYR1<\/jats:italic> were the most common cause of congenital myopathies at 1:90,000. Our data broadly agrees with estimates from previous European studies and provides the first estimate of the prevalence of congenital myopathies in the United States. Ann Neurol 2011;70:662\u2013665<\/jats:p>","DOI":"10.1002\/ana.22510","type":"journal-article","created":{"date-parts":[[2011,6,7]],"date-time":"2011-06-07T18:32:14Z","timestamp":1307471534000},"page":"662-665","source":"Crossref","is-referenced-by-count":143,"title":["Prevalence of congenital myopathies in a representative pediatric united states population"],"prefix":"10.1002","volume":"70","author":[{"given":"Kimberly","family":"Amburgey","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"McNamara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsey R.","family":"Bennett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Eileen","family":"McCormick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gyula","family":"Acsadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James J.","family":"Dowling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,10,25]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e32830f93c7"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(91)90039-U"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(94)00017-4"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(99)00055-3"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp236"},{"key":"e_1_2_7_7_2","unstructured":"US Census Bureau2007."},{"key":"e_1_2_7_8_2","unstructured":"CDC2007."},{"key":"e_1_2_7_9_2","doi-asserted-by":"crossref","first-page":"E1544","DOI":"10.1002\/humu.21278","article-title":"Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion","volume":"31","author":"Clarke NF","journal-title":"Hum Mutat"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22119"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm096"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.22510","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.22510","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T16:28:09Z","timestamp":1697473689000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.22510"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,10]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2011,10]]}},"alternative-id":["10.1002\/ana.22510"],"URL":"https:\/\/doi.org\/10.1002\/ana.22510","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,10]]}}}