{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T14:41:17Z","timestamp":1773844877029,"version":"3.50.1"},"reference-count":10,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2017,10,1]],"date-time":"2017-10-01T00:00:00Z","timestamp":1506816000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,10,1]],"date-time":"2017-10-01T00:00:00Z","timestamp":1506816000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2017,10]]},"DOI":"10.1016\/j.nmd.2017.06.015","type":"journal-article","created":{"date-parts":[[2017,6,27]],"date-time":"2017-06-27T03:15:35Z","timestamp":1498533335000},"page":"947-950","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"title":["Congenital myopathy due to myosin heavy chain 2 mutation presenting as chronic aspiration pneumonia in infancy"],"prefix":"10.1016","volume":"27","author":[{"given":"R.","family":"Tsabari","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Daum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Kerem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Fellig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Dor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"6","key":"10.1016\/j.nmd.2017.06.015_bib0010","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1038\/ejhg.2013.250","article-title":"Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations","volume":"22","author":"Tajsharghi","year":"2014","journal-title":"Eur J Hum Genet"},{"issue":"26","key":"10.1016\/j.nmd.2017.06.015_bib0015","doi-asserted-by":"crossref","first-page":"14614","DOI":"10.1073\/pnas.250289597","article-title":"Autosomal dominant myopathy: missense mutation (Glu-706 \u2192 Lys) in the myosin heavy chain IIa gene","volume":"97","author":"Martinsson","year":"2000","journal-title":"Proc Natl Acad Sci USA"},{"issue":"5","key":"10.1016\/j.nmd.2017.06.015_bib0020","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1212\/WNL.58.5.780","article-title":"Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age","volume":"58","author":"Tajsharghi","year":"2002","journal-title":"Neurology"},{"issue":"5","key":"10.1016\/j.nmd.2017.06.015_bib0025","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1038\/sj.ejhg.5201375","article-title":"Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2)","volume":"13","author":"Tajsharghi","year":"2005","journal-title":"Eur J Hum Genet"},{"issue":"Pt 7","key":"10.1016\/j.nmd.2017.06.015_bib0030","doi-asserted-by":"crossref","first-page":"e238","DOI":"10.1093\/brain\/aws365","article-title":"MYH2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12","volume":"136","author":"Lossos","year":"2013","journal-title":"Brain"},{"issue":"Pt 5","key":"10.1016\/j.nmd.2017.06.015_bib0035","doi-asserted-by":"crossref","first-page":"1451","DOI":"10.1093\/brain\/awq083","article-title":"Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations","volume":"133","author":"Tajsharghi","year":"2010","journal-title":"Brain"},{"issue":"Pt 1","key":"10.1016\/j.nmd.2017.06.015_bib0040","first-page":"42","article-title":"A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12","volume":"128","author":"Lossos","year":"2005","journal-title":"Brain"},{"issue":"5","key":"10.1016\/j.nmd.2017.06.015_bib0045","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/j.nmd.2013.02.011","article-title":"A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies","volume":"23","author":"D'Amico","year":"2013","journal-title":"Neuromuscul Disord"},{"issue":"2","key":"10.1016\/j.nmd.2017.06.015_bib0050","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1044\/1092-4388(2011\/10-0287)","article-title":"Myosin heavy chain composition of the human genioglossus muscle","volume":"55","author":"Daugherty","year":"2012","journal-title":"J Speech Lang Hear Res"},{"key":"10.1016\/j.nmd.2017.06.015_bib0055","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.aanat.2016.02.007","article-title":"Expression and identification of 10 sarcomeric MyHC isoforms in human skeletal muscles of different embryological origin. Diversity and similarity in mammalian species","volume":"207","author":"Mascarello","year":"2016","journal-title":"Ann Anat"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896617301761?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896617301761?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:05:36Z","timestamp":1760774736000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896617301761"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10]]},"references-count":10,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2017,10]]}},"alternative-id":["S0960896617301761"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2017.06.015","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2017,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Congenital myopathy due to myosin heavy chain 2 mutation presenting as chronic aspiration pneumonia in infancy","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2017.06.015","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}