{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,2,10]],"date-time":"2024-02-10T00:40:32Z","timestamp":1707525632457},"reference-count":14,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,1,18]]},"DOI":"10.7759\/cureus.52523","type":"journal-article","created":{"date-parts":[[2024,1,18]],"date-time":"2024-01-18T23:37:25Z","timestamp":1705621045000},"source":"Crossref","is-referenced-by-count":0,"title":["A Case of a Newborn With Nemaline Myopathy From Al-Qunfudhah City, Saudi Arabia"],"prefix":"10.7759","author":[{"given":"Bushra M","family":"Alghanmi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manal M","family":"Alghanmi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed  R","family":"Alhayli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Randa M","family":"Taffour","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Safeyah M","family":"Alghubayshi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.07.012","article-title":"Recent advances in nemaline myopathy","volume":"31","author":"Laitila J","year":"2021","unstructured":"Laitila J, Wallgren-Pettersson C. Recent advances in nemaline myopathy. Neuromuscul Disord. 2021, 31:955-67. 10.1016\/j.nmd.2021.07.012","journal-title":"Neuromuscul Disord"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007\/s10974-019-09519-9","article-title":"Nemaline myopathies: a current view","volume":"40","author":"Sewry CA","year":"2019","unstructured":"Sewry CA, Laitila JM, Wallgren-Pettersson C. Nemaline myopathies: a current view. J Muscle Res Cell Motil. 2019, 40:111-26. 10.1007\/s10974-019-09519-9","journal-title":"J Muscle Res Cell Motil"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2017.191","article-title":"Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction","volume":"14","author":"Jungbluth H","year":"2018","unstructured":"Jungbluth H, Treves S, Zorzato F, et al.. Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction. Nat Rev Neurol. 2018, 14:151-67. 10.1038\/nrneurol.2017.191","journal-title":"Nat Rev Neurol"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1159\/000517898","article-title":"Nemaline myopathy: a case report","volume":"13","author":"Mubaraki AA","year":"2021","unstructured":"Mubaraki AA. Nemaline myopathy: a case report. Case Rep Neurol. 2021, 13:499-503. 10.1159\/000517898","journal-title":"Case Rep Neurol"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1177\/08830738221096316","article-title":"Pediatric nemaline myopathy: a systematic review using individual patient data","volume":"37","author":"Christophers B","year":"2022","unstructured":"Christophers B, Lopez MA, Gupta VA, Vogel H, Baylies M. Pediatric nemaline myopathy: a systematic review using individual patient data. J Child Neurol. 2022, 37:652-63. 10.1177\/08830738221096316","journal-title":"J Child Neurol"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.8.480","article-title":"Genetics of congenital nemaline myopathy: a study of 10 families","volume":"27","author":"Wallgren-Pettersson C","year":"1990","unstructured":"Wallgren-Pettersson C, K\u00e4\u00e4ri\u00e4inen H, Rapola J, Salmi T, J\u00e4\u00e4skel\u00e4inen J, Donner M. Genetics of congenital nemaline myopathy: a study of 10 families. J Med Genet. 1990, 27:480-7. 10.1136\/jmg.27.8.480","journal-title":"J Med Genet"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1891\/0730-0832.37.4.212","article-title":"Hypotonia at birth: a case Study of ACTA-1 mutation, a congenital myopathy","volume":"37","author":"Gelardi L","year":"2018","unstructured":"Gelardi L. Hypotonia at birth: a case Study of ACTA-1 mutation, a congenital myopathy. Neonatal Netw. 2018, 37:212-7. 10.1891\/0730-0832.37.4.212","journal-title":"Neonatal Netw"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1017\/cjn.2015.59","article-title":"Congenital nemaline myopathy: the value of magnetic resonance imaging of muscle","volume":"42","author":"Ennis J","year":"2015","unstructured":"Ennis J, Dyment DA, Michaud J, McMillan HJ. Congenital nemaline myopathy: the value of magnetic resonance imaging of muscle. Can J Neurol Sci. 2015, 42:338-40. 10.1017\/cjn.2015.59","journal-title":"Can J Neurol Sci"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-71","article-title":"Spinal muscular atrophy","volume":"6","author":"D'Amico A","year":"2011","unstructured":"D'Amico A, Mercuri E, Tiziano FD, Bertini E. Spinal muscular atrophy. Orphanet J Rare Dis. 2011, 6:71. 10.1186\/1750-1172-6-71","journal-title":"Orphanet J Rare Dis"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12385","article-title":"Myopathology in times of modern imaging","volume":"43","author":"Jungbluth H","year":"2017","unstructured":"Jungbluth H. Myopathology in times of modern imaging. Neuropathol Appl Neurobiol. 2017, 43:24-43. 10.1111\/nan.12385","journal-title":"Neuropathol Appl Neurobiol"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3555","article-title":"Rare-disease genetics in the era of next-generation sequencing: discovery to translation","volume":"14","author":"Boycott KM","year":"2013","unstructured":"Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE. Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet. 2013, 14:681-91. 10.1038\/nrg3555","journal-title":"Nat Rev Genet"},{"key":"ref12","unstructured":"Nemaline myopathy. (2015). Accessed. January 1, 2024: https:\/\/medlineplus.gov\/genetics\/condition\/nemaline-myopathy\/#references."},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.5.2305","article-title":"Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy","volume":"96","author":"Pelin K","year":"1999","unstructured":"Pelin K, Hilpel\u00e4 P, Donner K, et al.. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A. 1999, 96:2305-10. 10.1073\/pnas.96.5.2305","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.166","article-title":"A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array","volume":"24","author":"Kiiski K","year":"2016","unstructured":"Kiiski K, Lehtokari VL, L\u00f6ytynoja A, Ahlst\u00e9n L, Laitila J, Wallgren-Pettersson C, Pelin K. A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. Eur J Hum Genet. 2016, 24:574-80. 10.1038\/ejhg.2015.166","journal-title":"Eur J Hum Genet"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/220718-a-case-of-a-newborn-with-nemaline-myopathy-from-al-qunfudhah-city-saudi-arabia","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T20:13:10Z","timestamp":1707509590000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/220718-a-case-of-a-newborn-with-nemaline-myopathy-from-al-qunfudhah-city-saudi-arabia"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,18]]},"references-count":14,"URL":"https:\/\/doi.org\/10.7759\/cureus.52523","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2024,1,18]]}}}