{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,2,10]],"date-time":"2024-02-10T00:31:44Z","timestamp":1707525104232},"reference-count":15,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,4,19]]},"DOI":"10.7759\/cureus.37824","type":"journal-article","created":{"date-parts":[[2023,4,19]],"date-time":"2023-04-19T13:30:14Z","timestamp":1681911014000},"source":"Crossref","is-referenced-by-count":0,"title":["A Case of Cardiogenic Stroke With a Novel LMNA Variant (c. 1135C>A; p.Leu379Ile)"],"prefix":"10.7759","author":[{"given":"Naoki","family":"Tokuda","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukiko","family":"Tsuji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michio","family":"Michio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ichizo","family":"Nishino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahiro","family":"Makino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.10.637","article-title":"Emery-Dreifuss syndrome","volume":"26","author":"Emery AE","year":"1989","unstructured":"Emery AE. Emery-Dreifuss syndrome. J Med Genet. 1989, 26:637-41. 10.1136\/jmg.26.10.637","journal-title":"J Med Genet"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000934","article-title":"LMNA-associated myopathies: the Italian experience in a large cohort of patients","volume":"83","author":"Maggi L","year":"2014","unstructured":"Maggi L, D'Amico A, Pini A, et al.. LMNA-associated myopathies: the Italian experience in a large cohort of patients. Neurology. 2014, 83:1634-44. 10.1212\/WNL.0000000000000934","journal-title":"Neurology"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104073","article-title":"Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders","volume":"54","author":"Nishikawa A","year":"2017","unstructured":"Nishikawa A, Mitsuhashi S, Miyata N, Nishino I. Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders. J Med Genet. 2017, 54:104-10. 10.1136\/jmedgenet-2016-104073","journal-title":"J Med Genet"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199912023412302","article-title":"Missense mutations in the rod domain of the lamin A\/C gene as causes of dilated cardiomyopathy and conduction-system disease","volume":"341","author":"Fatkin D","year":"1999","unstructured":"Fatkin D, MacRae C, Sasaki T, et al.. Missense mutations in the rod domain of the lamin A\/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med. 1999, 341:1715-24. 10.1056\/NEJM199912023412302","journal-title":"N Engl J Med"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.05.007","article-title":"229th ENMC international workshop: limb girdle muscular dystrophies - nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017","volume":"28","author":"Straub V","year":"2018","unstructured":"Straub V, Murphy A, Udd B. 229th ENMC international workshop: limb girdle muscular dystrophies - nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. Neuromuscul Disord. 2018, 28:702-10. 10.1016\/j.nmd.2018.05.007","journal-title":"Neuromuscul Disord"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/s0035-3787(05)84972-0","article-title":"[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations]","volume":"161","author":"Ben Yaou R","year":"2005","unstructured":"Ben Yaou R, B\u00e9cane H-M, Demay L, et al.. [Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations]. Rev Neurol (Paris). 2005, 161:42-54. 10.1016\/s0035-3787(05)84972-0","journal-title":"Rev Neurol (Paris)"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-11211-2","article-title":"Genetic mechanisms contribute to the development of heart failure in patients with atrioventricular block and right ventricular apical pacing","volume":"7","author":"Liu N","year":"2017","unstructured":"Liu N, Zheng M, Li S, et al.. Genetic mechanisms contribute to the development of heart failure in patients with atrioventricular block and right ventricular apical pacing. Sci Rep. 2017, 7:10676. 10.1038\/s41598-017-11211-2","journal-title":"Sci Rep"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards S","year":"2015","unstructured":"Richards S, Aziz N, Bale S, et al.. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015, 17:405-24. 10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2012.08.002","article-title":"TREAT-NMD workshop: pattern recognition in genetic muscle diseases using muscle MRI: 25-26 February 2011, Rome, Italy","volume":"22 Suppl 2","author":"Straub V","year":"2012","unstructured":"Straub V, Carlier PG, Mercuri E. TREAT-NMD workshop: pattern recognition in genetic muscle diseases using muscle MRI: 25-26 February 2011, Rome, Italy. Neuromuscul Disord. 2012, 22 Suppl 2:S42-53. 10.1016\/j.nmd.2012.08.002","journal-title":"Neuromuscul Disord"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410390513","article-title":"A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement","volume":"39","author":"van der Kooi AJ","year":"1996","unstructured":"van der Kooi AJ, Ledderhof TM, de Voogt WG, et al.. A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. Ann Neurol. 1996, 39:636-42. 10.1002\/ana.410390513","journal-title":"Ann Neurol"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2012.09.118","article-title":"Lamin A\/C mutation is independently associated with an increased risk of arterial and venous thromboembolic complications","volume":"168","author":"van Rijsingen IA","year":"2013","unstructured":"van Rijsingen IA, Bakker A, Azim D, et al.. Lamin A\/C mutation is independently associated with an increased risk of arterial and venous thromboembolic complications. Int J Cardiol. 2013, 168:472-7. 10.1016\/j.ijcard.2012.09.118","journal-title":"Int J Cardiol"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1253\/circj.CJ-18-0339","article-title":"Clinical manifestations and long-term mortality in lamin A\/C mutation carriers from a Japanese multicenter registry","volume":"82","author":"Nakajima K","year":"2018","unstructured":"Nakajima K, Aiba T, Makiyama T, et al.. Clinical manifestations and long-term mortality in lamin A\/C mutation carriers from a Japanese multicenter registry. Circ J. 2018, 82:2707-14. 10.1253\/circj.CJ-18-0339","journal-title":"Circ J"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehaa612","article-title":"2020 ESC Guidelines for the diagnosis and management of atrial fibrillation developed in collaboration with the European Association for Cardio-Thoracic Surgery (EACTS): the task force for the diagnosis and management of atrial fibrillation of the European Society of Cardiology (ESC) developed with the special contribution of the European Heart Rhythm Association (EHRA) of the ESC","volume":"42","author":"Hindricks G","year":"2021","unstructured":"Hindricks G, Potpara T, Dagres N, et al.. 2020 ESC Guidelines for the diagnosis and management of atrial fibrillation developed in collaboration with the European Association for Cardio-Thoracic Surgery (EACTS): the task force for the diagnosis and management of atrial fibrillation of the European Society of Cardiology (ESC) developed with the special contribution of the European Heart Rhythm Association (EHRA) of the ESC. Eur Heart J. 2021, 42:373-498. 10.1093\/eurheartj\/ehaa612","journal-title":"Eur Heart J"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1159\/000331930","article-title":"Successful intravenous rt-PA thrombolysis for a childhood cardioembolic stroke with Emery-Dreifuss muscular dystrophy","volume":"33","author":"Tanaka K","year":"2012","unstructured":"Tanaka K, Uehara T, Sato K, Amano T, Minematsu K, Toyoda K. Successful intravenous rt-PA thrombolysis for a childhood cardioembolic stroke with Emery-Dreifuss muscular dystrophy. Cerebrovasc Dis. 2012, 33:92-3. 10.1159\/000331930","journal-title":"Cerebrovasc Dis"},{"key":"ref15","article-title":"A young patient with Emery-Dreifuss muscular dystrophy treated with endovascular therapy for cardioembolic stroke: a case report","volume":"43","author":"Homma K","year":"2018","unstructured":"Homma K, Nagata E, Hanano H, et al.. A young patient with Emery-Dreifuss muscular dystrophy treated with endovascular therapy for cardioembolic stroke: a case report. Tokai J Exp Clin Med. 2018, 43:103-5.","journal-title":"Tokai J Exp Clin Med"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/138222-a-case-of-cardiogenic-stroke-with-a-novel-lmna-variant-c-1135ca-pleu379ile","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T20:00:15Z","timestamp":1707508815000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/138222-a-case-of-cardiogenic-stroke-with-a-novel-lmna-variant-c-1135ca-pleu379ile"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,19]]},"references-count":15,"URL":"https:\/\/doi.org\/10.7759\/cureus.37824","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2023,4,19]]}}}