{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,16]],"date-time":"2025-11-16T06:19:17Z","timestamp":1763273957467},"reference-count":7,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2019,4,1]],"date-time":"2019-04-01T00:00:00Z","timestamp":1554076800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","jocn-journal.com","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Clinical Neuroscience"],"published-print":{"date-parts":[[2019,4]]},"DOI":"10.1016\/j.jocn.2018.12.024","type":"journal-article","created":{"date-parts":[[2019,1,3]],"date-time":"2019-01-03T17:00:57Z","timestamp":1546534857000},"page":"238-239","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"special_numbering":"C","title":["Congenital myopathy with a novel SELN missense mutation and the challenge to differentiate it from congenital muscular dystrophy"],"prefix":"10.1016","volume":"62","author":[{"given":"Mohamed","family":"Kazamel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margherita","family":"Milone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jocn.2018.12.024_b0005","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1086\/342719","article-title":"Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies","volume":"71","author":"Ferreiro","year":"2002","journal-title":"Am J Hum Gen"},{"key":"10.1016\/j.jocn.2018.12.024_b0010","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1002\/mus.25054","article-title":"Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel MEGF10 mutations","volume":"53","author":"Liewluck","year":"2016","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.jocn.2018.12.024_b0015","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1007\/s00401-016-1656-8","article-title":"Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy","volume":"133","author":"Schartner","year":"2017","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.jocn.2018.12.024_b0020","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1002\/ana.20761","article-title":"SEPN1: associated with congenital fiber-type disproportion and insulin resistance","volume":"59","author":"Clarke","year":"2006","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jocn.2018.12.024_b0025","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1002\/ana.20077","article-title":"Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene","volume":"55","author":"Ferreiro","year":"2004","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jocn.2018.12.024_b0030","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.nmd.2013.11.003","article-title":"Approach to the diagnosis of congenital myopathies","volume":"24","author":"North","year":"2014","journal-title":"Neuromuscul Dis"},{"key":"10.1016\/j.jocn.2018.12.024_b0035","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1038\/ng713","article-title":"Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome","volume":"29","author":"Moghadaszadeh","year":"2001","journal-title":"Nature Gen"}],"container-title":["Journal of Clinical Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0967586818320460?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0967586818320460?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,3,12]],"date-time":"2019-03-12T22:40:02Z","timestamp":1552430402000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0967586818320460"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,4]]},"references-count":7,"alternative-id":["S0967586818320460"],"URL":"https:\/\/doi.org\/10.1016\/j.jocn.2018.12.024","relation":{},"ISSN":["0967-5868"],"issn-type":[{"value":"0967-5868","type":"print"}],"subject":[],"published":{"date-parts":[[2019,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Congenital myopathy with a novel SELN missense mutation and the challenge to differentiate it from congenital muscular dystrophy","name":"articletitle","label":"Article Title"},{"value":"Journal of Clinical Neuroscience","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jocn.2018.12.024","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}