{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T13:07:03Z","timestamp":1791032823616,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,3,9]],"date-time":"2012-03-09T00:00:00Z","timestamp":1331251200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Nemaline myopathy (NM) is a group of congenital myopathies, characterized by the presence of distinct rod\u2010like inclusions \u201cnemaline bodies\u201d in the sarcoplasm of skeletal muscle fibers. To date,\n                    <jats:italic>ACTA1<\/jats:italic>\n                    ,\n                    <jats:italic>NEB<\/jats:italic>\n                    ,\n                    <jats:italic>TPM3<\/jats:italic>\n                    ,\n                    <jats:italic>TPM2<\/jats:italic>\n                    ,\n                    <jats:italic>TNNT1<\/jats:italic>\n                    , and\n                    <jats:italic>CFL2<\/jats:italic>\n                    have been found to cause NM. We have identified recessive\n                    <jats:italic>RYR<\/jats:italic>\n                    1 mutations in a patient with severe congenital NM, through high\u2010throughput screening of congenital myopathy\/muscular dystrophy\u2010related genes using massively parallel sequencing with target gene capture. The patient manifested fetal akinesia, neonatal severe hypotonia with muscle weakness, respiratory insufficiency, swallowing disturbance, and ophthalomoplegia. Skeletal muscle histology demonstrated nemaline bodies and small type 1 fibers, but without central cores or minicores. Congenital myopathies, a molecularly, histopathologically, and clinically heterogeneous group of disorders are considered to be a good candidate for massively parallel sequencing. \u00a9 2012 Wiley Periodicals, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.35243","type":"journal-article","created":{"date-parts":[[2012,3,9]],"date-time":"2012-03-09T16:27:19Z","timestamp":1331310439000},"page":"772-778","source":"Crossref","is-referenced-by-count":36,"title":["Recessive\n                    <i>RYR1<\/i>\n                    mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing"],"prefix":"10.1002","volume":"158A","author":[{"given":"Eri","family":"Kondo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takafumi","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoki","family":"Kosho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuji","family":"Inaba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satomi","family":"Mitsuhashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takefumi","family":"Ishida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Baba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenichi","family":"Koike","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichizo","family":"Nishino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ikuya","family":"Nonaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toru","family":"Furukawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kayoko","family":"Saito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,3,9]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20157"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21397"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.02.015"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21278"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10231"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90084-R"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21221"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.59.2.284"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000188870.37076.f2"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20715"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.18.2599"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg121"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20696"},{"key":"e_1_2_7_15_1","unstructured":"NorthK RyanMM.2010.Nemaline myopathy. In: GeneReviews at genetests: Medical Genetics Information Resource (database online). Copyright University of Washington Seattle 1997\u20132011. Available athttp:\/\/www.genetests.org. Accessed May 14 2011."},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0993-51"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20356"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg244"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.11.1689"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10974-008-9155-8"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1012989107"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.083568"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1007983107"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22119"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0993-46"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm096"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35243","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35243","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T04:39:27Z","timestamp":1697603967000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35243"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,3,9]]},"references-count":25,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,4]]}},"alternative-id":["10.1002\/ajmg.a.35243"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35243","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,3,9]]}}}