{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T19:39:54Z","timestamp":1786736394393,"version":"build-2736575974"},"reference-count":9,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Neurosci"],"published-print":{"date-parts":[[2019]]},"DOI":"10.4103\/jpn.jpn_60_19","type":"journal-article","created":{"date-parts":[[2019,12,5]],"date-time":"2019-12-05T04:47:24Z","timestamp":1575521244000},"page":"222","source":"Crossref","is-referenced-by-count":11,"title":["KLHL40 mutation associated with severe nemaline myopathy, fetal akinesia, and cleft palate"],"prefix":"10.4103","volume":"14","author":[{"given":"Inusha","family":"Panigrahi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"KapilK","family":"Avasthi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarita","family":"Agarwal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"key-10.4103\/1817-1745.272362-1","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.nmd.2013.11.003","article-title":"Approach to the diagnosis of congenital myopathies","author":"North","year":"2014","journal-title":"Neuromuscul Disord"},{"key":"key-10.4103\/1817-1745.272362-2","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1093\/brain\/awu368","article-title":"Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus","author":"Ravenscroft","year":"2015","journal-title":"Brain"},{"key":"key-10.4103\/1817-1745.272362-3","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1177\/0883073812436605","article-title":"Consensus statement on standard of care for congenital myopathies","author":"Wang","year":"2012","journal-title":"J Child Neurol"},{"key":"key-10.4103\/1817-1745.272362-4","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.spen.2011.10.005","article-title":"Core myopathies","author":"Jungbluth","year":"2011","journal-title":"Semin Pediatr Neurol"},{"key":"key-10.4103\/1817-1745.272362-5","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.ajhg.2013.05.004","article-title":"Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy","author":"Ravenscroft","year":"2013","journal-title":"Am J Hum Genet"},{"key":"key-10.4103\/1817-1745.272362-6","doi-asserted-by":"crossref","first-page":"1827","DOI":"10.1002\/jum.14520","article-title":"LMOD3-associated nemaline myopathy: prenatal ultrasonographic, pathologic, and molecular findings","author":"Berkenstadt","year":"2018","journal-title":"J Ultrasound Med"},{"key":"key-10.4103\/1817-1745.272362-7","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1016\/S0960-8966(02)00065-2","article-title":"Mutations in the nebulin gene can cause severe congenital nemaline myopathy","author":"Wallgren-Pettersson","year":"2002","journal-title":"Neuromuscul Disord"},{"key":"key-10.4103\/1817-1745.272362-8","first-page":"165","article-title":"Congenital myopathies: An Update","author":"Nance","year":"2015","journal-title":"Curr Neurol Neurosci Rep"},{"key":"key-10.4103\/1817-1745.272362-9","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.ejmg.2014.04.003","article-title":"Genetics of cleft lip and\/or cleft palate: association with other common anomalies","author":"Set\u00f3-Salvia","year":"2014","journal-title":"Eur J Med Genet"}],"container-title":["Journal of Pediatric Neurosciences"],"original-title":[],"language":"en","deposited":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T18:41:16Z","timestamp":1786732876000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/jpn.JPN_60_19"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019]]},"references-count":9,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2019]]}},"alternative-id":["272362"],"URL":"https:\/\/doi.org\/10.4103\/jpn.jpn_60_19","relation":{},"ISSN":["1817-1745"],"issn-type":[{"value":"1817-1745","type":"print"}],"subject":[],"published":{"date-parts":[[2019]]}}}