{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T01:01:50Z","timestamp":1790816510757,"version":"4.1.0"},"reference-count":56,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","internationaljournalofcardiology.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["International Journal of Cardiology"],"published-print":{"date-parts":[[2022,9]]},"DOI":"10.1016\/j.ijcard.2022.06.038","type":"journal-article","created":{"date-parts":[[2022,6,14]],"date-time":"2022-06-14T11:17:36Z","timestamp":1655205456000},"page":"149-158","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":22,"special_numbering":"C","title":["The LMNA p.R541C mutation causes dilated cardiomyopathy in human and mice"],"prefix":"10.1016","volume":"363","author":[{"given":"Luzi","family":"Yang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinhuan","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhan","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yueshen","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junsen","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaomin","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingming","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanwu","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yifei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuxuan","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erdan","family":"Dong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"9","key":"10.1016\/j.ijcard.2022.06.038_bb0005","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1038\/nrcardio.2013.105","article-title":"Dilated cardiomyopathy: the complexity of a diverse genetic architecture","volume":"10","author":"Hershberger","year":"2013","journal-title":"Nat. Rev. Cardiol."},{"issue":"2","key":"10.1016\/j.ijcard.2022.06.038_bb0010","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1002\/ejhf.1103","article-title":"Evolving concepts in dilated cardiomyopathy","volume":"20","author":"Merlo","year":"2018","journal-title":"Eur. J. Heart Fail."},{"issue":"1","key":"10.1016\/j.ijcard.2022.06.038_bb0015","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/s13073-017-0410-8","article-title":"Genetics and genomics of dilated cardiomyopathy and systolic heart failure","volume":"9","author":"Tayal","year":"2017","journal-title":"Genome Med."},{"key":"10.1016\/j.ijcard.2022.06.038_bb0020","doi-asserted-by":"crossref","first-page":"231","DOI":"10.3389\/fgene.2018.00231","article-title":"Exploring the crosstalk between LMNA and splicing machinery gene mutations in dilated cardiomyopathy","volume":"9","author":"Zahr","year":"2018","journal-title":"Front. Genet."},{"issue":"11","key":"10.1016\/j.ijcard.2022.06.038_bb0025","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a000547","article-title":"Nuclear lamins","volume":"2","author":"Dechat","year":"2010","journal-title":"Cold Spring Harb. Perspect. Biol."},{"issue":"1","key":"10.1016\/j.ijcard.2022.06.038_bb0030","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.tcb.2017.08.004","article-title":"Nuclear Lamins: thin filaments with major functions","volume":"28","author":"de Leeuw","year":"2018","journal-title":"Trends Cell Biol."},{"issue":"Pt 2","key":"10.1016\/j.ijcard.2022.06.038_bb0035","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1242\/jcs.108.2.635","article-title":"Lamin proteins form an internal nucleoskeleton as well as a peripheral lamina in human cells","volume":"108","author":"Hozak","year":"1995","journal-title":"J. Cell Sci."},{"issue":"5","key":"10.1016\/j.ijcard.2022.06.038_bb0040","doi-asserted-by":"crossref","first-page":"425","DOI":"10.4161\/nucl.2.5.17765","article-title":"Lamin a and Lamin C form homodimers and coexist in higher complex forms both in the nucleoplasmic fraction and in the lamina of cultured human cells","volume":"2","author":"Kolb","year":"2011","journal-title":"Nucleus."},{"issue":"3","key":"10.1016\/j.ijcard.2022.06.038_bb0045","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1007\/s00109-007-0275-1","article-title":"Incomplete nonsense-mediated decay of mutant Lamin a\/C mRNA provokes dilated cardiomyopathy and ventricular tachycardia","volume":"86","author":"Geiger","year":"2008","journal-title":"J Mol Med (Berl)."},{"issue":"5","key":"10.1016\/j.ijcard.2022.06.038_bb0050","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1161\/CIRCGEN.119.002853","article-title":"LMNA missense mutation causes nonsense-mediated mRNA decay and severe dilated cardiomyopathy","volume":"13","author":"Kato","year":"2020","journal-title":"Circ Genom Precis Med."},{"issue":"7769","key":"10.1016\/j.ijcard.2022.06.038_bb0055","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1038\/s41586-019-1406-x","article-title":"Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy","volume":"572","author":"Lee","year":"2019","journal-title":"Nature."},{"issue":"5","key":"10.1016\/j.ijcard.2022.06.038_bb0060","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1016\/j.devcel.2019.10.023","article-title":"ERK1\/2 phosphorylation of FHOD connects signaling and nuclear positioning alternations in cardiac Laminopathy","volume":"51","author":"Antoku","year":"2019","journal-title":"Dev. Cell"},{"issue":"35","key":"10.1016\/j.ijcard.2022.06.038_bb0065","doi-asserted-by":"crossref","first-page":"25768","DOI":"10.1074\/jbc.M513511200","article-title":"Lamins a and C but not Lamin B1 regulate nuclear mechanics","volume":"281","author":"Lammerding","year":"2006","journal-title":"J. Biol. Chem."},{"issue":"8","key":"10.1016\/j.ijcard.2022.06.038_bb0070","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1091\/mbc.e13-11-0644","article-title":"Concentration-dependent Lamin assembly and its roles in the localization of other nuclear proteins","volume":"25","author":"Guo","year":"2014","journal-title":"Mol. Biol. Cell"},{"issue":"4","key":"10.1016\/j.ijcard.2022.06.038_bb0075","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1038\/s41563-019-0563-5","article-title":"Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells","volume":"19","author":"Earle","year":"2020","journal-title":"Nat. Mater."},{"issue":"5","key":"10.1016\/j.ijcard.2022.06.038_bb0080","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1172\/JCI29042","article-title":"Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy","volume":"117","author":"Muchir","year":"2007","journal-title":"J. Clin. Invest."},{"issue":"144","key":"10.1016\/j.ijcard.2022.06.038_bb0085","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.3003875","article-title":"Temsirolimus activates autophagy and ameliorates cardiomyopathy caused by Lamin a\/C gene mutation","volume":"4","author":"Choi","year":"2012","journal-title":"Sci. Transl. Med."},{"issue":"10","key":"10.1016\/j.ijcard.2022.06.038_bb0090","doi-asserted-by":"crossref","first-page":"2542","DOI":"10.1016\/j.celrep.2016.10.040","article-title":"Rapamycin reverses metabolic deficits in Lamin a\/C-deficient mice","volume":"17","author":"Liao","year":"2016","journal-title":"Cell Rep."},{"issue":"2","key":"10.1016\/j.ijcard.2022.06.038_bb0095","first-page":"333","article-title":"Decreased WNT\/beta-catenin signalling contributes to the pathogenesis of dilated cardiomyopathy caused by mutations in the Lamin a\/C gene","volume":"26","author":"Le Dour","year":"2017","journal-title":"Hum. Mol. Genet."},{"issue":"7450","key":"10.1016\/j.ijcard.2022.06.038_bb0100","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1038\/nature12105","article-title":"Lamin a\/C and emerin regulate MKL1-SRF activity by modulating actin dynamics","volume":"497","author":"Ho","year":"2013","journal-title":"Nature."},{"issue":"8","key":"10.1016\/j.ijcard.2022.06.038_bb0105","doi-asserted-by":"crossref","first-page":"1198","DOI":"10.1161\/CIRCRESAHA.118.314177","article-title":"Genomic reorganization of Lamin-associated domains in cardiac myocytes is associated with differential gene expression and DNA methylation in human dilated cardiomyopathy","volume":"124","author":"Cheedipudi","year":"2019","journal-title":"Circ. Res."},{"issue":"5","key":"10.1016\/j.ijcard.2022.06.038_bb0110","doi-asserted-by":"crossref","first-page":"938","DOI":"10.1016\/j.stem.2020.12.016","article-title":"Pathogenic LMNA variants disrupt cardiac lamina-chromatin interactions and de-repress alternative fate genes","volume":"28","author":"Shah","year":"2021","journal-title":"Cell Stem Cell"},{"issue":"9","key":"10.1016\/j.ijcard.2022.06.038_bb0115","doi-asserted-by":"crossref","first-page":"4740","DOI":"10.1172\/JCI135922","article-title":"BET bromodomain inhibition attenuates cardiac phenotype in myocyte-specific Lamin a\/C-deficient mice","volume":"130","author":"Auguste","year":"2020","journal-title":"J. Clin. Invest."},{"issue":"1","key":"10.1016\/j.ijcard.2022.06.038_bb0120","doi-asserted-by":"crossref","DOI":"10.1172\/JCI136488","article-title":"Targeting the histone demethylase LSD1 prevents cardiomyopathy in a mouse model of laminopathy","volume":"131","author":"Guenantin","year":"2021","journal-title":"J. Clin. Invest."},{"issue":"9","key":"10.1016\/j.ijcard.2022.06.038_bb0125","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1161\/CIRCRESAHA.119.314794","article-title":"Yin Yang 1 suppresses dilated cardiomyopathy and cardiac fibrosis through regulation of Bmp7 and Ctgf","volume":"125","author":"Tan","year":"2019","journal-title":"Circ. Res."},{"issue":"1","key":"10.1016\/j.ijcard.2022.06.038_bb0130","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1093\/bioinformatics\/bts635","article-title":"STAR: ultrafast universal RNA-seq aligner","volume":"29","author":"Dobin","year":"2013","journal-title":"Bioinformatics."},{"issue":"7","key":"10.1016\/j.ijcard.2022.06.038_bb0135","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1093\/bioinformatics\/btt656","article-title":"featureCounts: an efficient general purpose program for assigning sequence reads to genomic features","volume":"30","author":"Liao","year":"2014","journal-title":"Bioinformatics."},{"issue":"12","key":"10.1016\/j.ijcard.2022.06.038_bb0140","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1186\/s13059-014-0550-8","article-title":"Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2","volume":"15","author":"Love","year":"2014","journal-title":"Genome Biol."},{"issue":"43","key":"10.1016\/j.ijcard.2022.06.038_bb0145","doi-asserted-by":"crossref","first-page":"15545","DOI":"10.1073\/pnas.0506580102","article-title":"Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles","volume":"102","author":"Subramanian","year":"2005","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"6","key":"10.1016\/j.ijcard.2022.06.038_bb0150","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1016\/S1388-9842(03)00149-1","article-title":"Apical left ventricular aneurysm without atrio-ventricular block due to a Lamin a\/C gene mutation","volume":"5","author":"Forissier","year":"2003","journal-title":"Eur. J. Heart Fail."},{"issue":"7","key":"10.1016\/j.ijcard.2022.06.038_bb0155","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1111\/j.1540-8167.2007.01017.x","article-title":"Cardiac arrest and left ventricular fibrosis in a Finnish family with the Lamin a\/C mutation","volume":"19","author":"Hookana","year":"2008","journal-title":"J. Cardiovasc. Electrophysiol."},{"issue":"3","key":"10.1016\/j.ijcard.2022.06.038_bb0160","doi-asserted-by":"crossref","first-page":"e51","DOI":"10.1016\/j.ijcard.2008.12.083","article-title":"Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene","volume":"144","author":"Saj","year":"2010","journal-title":"Int. J. Cardiol."},{"issue":"5","key":"10.1016\/j.ijcard.2022.06.038_bb0165","doi-asserted-by":"crossref","first-page":"3179","DOI":"10.1002\/ehf2.12822","article-title":"Case series: LMNA-related dilated cardiomyopathy presents with reginal wall akinesis and transmural late gadolinium enhancement","volume":"7","author":"Wang","year":"2020","journal-title":"ESC Heart Fail."},{"key":"10.1016\/j.ijcard.2022.06.038_bb0170","article-title":"Generation of an iPSC cell line (USFi003-a) from a patient with dilated cardiomyopathy carrying a heterozygous mutation in LMNA (p.R541C)","volume":"54","author":"Yang","year":"2021","journal-title":"Stem Cell Res."},{"issue":"1","key":"10.1016\/j.ijcard.2022.06.038_bb0175","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1038\/jhg.2010.137","article-title":"A new c.1621 C > G, p.R541G Lamin a\/C mutation in a family with DCM and regional wall motion abnormalities (akinesis\/dyskinesis): genotype-phenotype correlation","volume":"56","author":"Malek","year":"2011","journal-title":"J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.ijcard.2022.06.038_bb0180","first-page":"e79","article-title":"Unusual presentations of Lmna-associated lipodystrophy with complex phenotypes and generalized fat loss: when the genetic diagnosis uncovers novel features","volume":"6","author":"de Andrade","year":"2020","journal-title":"AACE Clin Case Rep."},{"issue":"8","key":"10.1016\/j.ijcard.2022.06.038_bb0185","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1136\/jmg.2004.023283","article-title":"In vivo and in vitro examination of the functional significances of novel Lamin gene mutations in heart failure patients","volume":"42","author":"Sylvius","year":"2005","journal-title":"J. Med. Genet."},{"issue":"12","key":"10.1016\/j.ijcard.2022.06.038_bb0190","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0015167","article-title":"LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice","volume":"5","author":"Lu","year":"2010","journal-title":"PLoS One"},{"issue":"1","key":"10.1016\/j.ijcard.2022.06.038_bb0195","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1093\/hmg\/ddi017","article-title":"Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies","volume":"14","author":"Arimura","year":"2005","journal-title":"Hum. Mol. Genet."},{"issue":"16","key":"10.1016\/j.ijcard.2022.06.038_bb0200","doi-asserted-by":"crossref","first-page":"2479","DOI":"10.1093\/hmg\/ddl170","article-title":"Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K Lamin a encoded by an LMNA mutation causing Emery-Dreifuss muscular dystrophy","volume":"15","author":"Wang","year":"2006","journal-title":"Hum. Mol. Genet."},{"issue":"15","key":"10.1016\/j.ijcard.2022.06.038_bb0205","doi-asserted-by":"crossref","first-page":"2167","DOI":"10.1093\/hmg\/ddi221","article-title":"Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice","volume":"14","author":"Mounkes","year":"2005","journal-title":"Hum. Mol. Genet."},{"issue":"3","key":"10.1016\/j.ijcard.2022.06.038_bb0210","doi-asserted-by":"crossref","DOI":"10.1016\/j.cell.2017.09.018","article-title":"Genome-nuclear Lamina interactions regulate cardiac stem cell lineage restriction","volume":"171","author":"Poleshko","year":"2017","journal-title":"Cell."},{"issue":"6937","key":"10.1016\/j.ijcard.2022.06.038_bb0215","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1038\/nature01631","article-title":"A progeroid syndrome in mice is caused by defects in A-type lamins","volume":"423","author":"Mounkes","year":"2003","journal-title":"Nature."},{"issue":"13","key":"10.1016\/j.ijcard.2022.06.038_bb0220","doi-asserted-by":"crossref","first-page":"2682","DOI":"10.1093\/hmg\/ddq158","article-title":"An accumulation of non-farnesylated prelamin a causes cardiomyopathy but not progeria","volume":"19","author":"Davies","year":"2010","journal-title":"Hum. Mol. Genet."},{"issue":"7","key":"10.1016\/j.ijcard.2022.06.038_bb0225","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.117.002038","article-title":"Multigenic disease and Bilineal inheritance in dilated cardiomyopathy is illustrated in nonsegregating LMNA pedigrees","volume":"11","author":"Cowan","year":"2018","journal-title":"Circ Genom Precis Med."},{"issue":"11","key":"10.1016\/j.ijcard.2022.06.038_bb0230","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1038\/nrg3335","article-title":"Genome-wide association studies in mice","volume":"13","author":"Flint","year":"2012","journal-title":"Nat. Rev. Genet."},{"issue":"1","key":"10.1016\/j.ijcard.2022.06.038_bb0235","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1038\/s41525-021-00265-x","article-title":"Most myopathic Lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance","volume":"6","author":"Anderson","year":"2021","journal-title":"NPJ Genom Med."},{"issue":"2","key":"10.1016\/j.ijcard.2022.06.038_bb0240","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1002\/humu.21361","article-title":"Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations","volume":"32","author":"Scharner","year":"2011","journal-title":"Hum. Mutat."},{"issue":"3","key":"10.1016\/j.ijcard.2022.06.038_bb0245","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/6799","article-title":"Mutations in the gene encoding Lamin a\/C cause autosomal dominant Emery-Dreifuss muscular dystrophy","volume":"21","author":"Bonne","year":"1999","journal-title":"Nat. Genet."},{"issue":"2","key":"10.1016\/j.ijcard.2022.06.038_bb0250","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1002\/ana.21417","article-title":"De novo LMNA mutations cause a new form of congenital muscular dystrophy","volume":"64","author":"Quijano-Roy","year":"2008","journal-title":"Ann. Neurol."},{"issue":"5","key":"10.1016\/j.ijcard.2022.06.038_bb0255","doi-asserted-by":"crossref","first-page":"2289","DOI":"10.1210\/jcem.86.5.7500","article-title":"Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene","volume":"86","author":"Schmidt","year":"2001","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"3","key":"10.1016\/j.ijcard.2022.06.038_bb0260","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1091\/mbc.e12-07-0527","article-title":"Lamin a tail modification by SUMO1 is disrupted by familial partial lipodystrophy-causing mutations","volume":"24","author":"Simon","year":"2013","journal-title":"Mol. Biol. Cell"},{"issue":"4","key":"10.1016\/j.ijcard.2022.06.038_bb0265","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1086\/302869","article-title":"Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy","volume":"66","author":"Raffaele Di Barletta","year":"2000","journal-title":"Am. J. Hum. Genet."},{"issue":"9","key":"10.1016\/j.ijcard.2022.06.038_bb0270","doi-asserted-by":"crossref","first-page":"5259","DOI":"10.1210\/jc.2004-2560","article-title":"A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia","volume":"90","author":"Garg","year":"2005","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ijcard.2022.06.038_bb0275","article-title":"Mandibuloacral dysplasia caused by LMNA mutations and uniparental Disomy","volume":"2014","author":"Bai","year":"2014","journal-title":"Case Rep. Genet."},{"issue":"8","key":"10.1016\/j.ijcard.2022.06.038_bb0280","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1136\/jmg.2004.019661","article-title":"Homozygous missense mutation in the Lamin a\/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome","volume":"41","author":"Plasilova","year":"2004","journal-title":"J. Med. Genet."}],"container-title":["International Journal of Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S016752732200938X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S016752732200938X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T20:58:41Z","timestamp":1759093121000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S016752732200938X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9]]},"references-count":56,"alternative-id":["S016752732200938X"],"URL":"https:\/\/doi.org\/10.1016\/j.ijcard.2022.06.038","relation":{},"ISSN":["0167-5273"],"issn-type":[{"value":"0167-5273","type":"print"}],"subject":[],"published":{"date-parts":[[2022,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The LMNA p.R541C mutation causes dilated cardiomyopathy in human and mice","name":"articletitle","label":"Article Title"},{"value":"International Journal of Cardiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ijcard.2022.06.038","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}