{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T11:15:21Z","timestamp":1790680521272,"version":"4.1.0"},"reference-count":58,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2020,3,20]],"date-time":"2020-03-20T00:00:00Z","timestamp":1584662400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Variants in LMNA, encoding A-type lamins, are responsible for laminopathies including muscular dystrophies, lipodystrophies, and progeroid syndromes. Cardiovascular laminopathic involvement is classically described as cardiomyopathy in striated muscle laminopathies, and arterial wall dysfunction and\/or valvulopathy in lipodystrophic and\/or progeroid laminopathies. We report unexpected cardiovascular phenotypes in patients with LMNA-associated lipodystrophies, illustrating the complex multitissular pathophysiology of the disease and the need for specific cardiovascular investigations in affected patients. A 33-year-old woman was diagnosed with generalized lipodystrophy and atypical progeroid syndrome due to the newly identified heterozygous LMNA p.(Asp136Val) variant. Her complex cardiovascular phenotype was associated with atherosclerosis, aortic valvular disease and left ventricular hypertrophy with rhythm and conduction defects. A 29-year-old woman presented with a partial lipodystrophy syndrome and a severe coronary atherosclerosis which required a triple coronary artery bypass grafting. She carried the novel heterozygous p.(Arg60Pro) LMNA variant inherited from her mother, affected with partial lipodystrophy and dilated cardiomyopathy. Different lipodystrophy-associated LMNA pathogenic variants could target cardiac vasculature and\/or muscle, leading to complex overlapping phenotypes. Unifying pathophysiological hypotheses should be explored in several cell models including adipocytes, cardiomyocytes and vascular cells. Patients with LMNA-associated lipodystrophy should be systematically investigated with 24-h ECG monitoring, echocardiography and non-invasive coronary function testing.<\/jats:p>","DOI":"10.3390\/cells9030765","type":"journal-article","created":{"date-parts":[[2020,3,20]],"date-time":"2020-03-20T11:42:11Z","timestamp":1584704531000},"page":"765","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice"],"prefix":"10.3390","volume":"9","author":[{"given":"H\u00e9l\u00e9na","family":"Mosbah","sequence":"first","affiliation":[{"name":"Inserm UMRS938, Saint-Antoine Research Center, Sorbonne University, 75012 Paris, France"},{"name":"Reference Center of Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Department of Endocrinology, AP-HP Saint-Antoine Hospital, 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camille","family":"Vatier","sequence":"additional","affiliation":[{"name":"Inserm UMRS938, Saint-Antoine Research Center, Sorbonne University, 75012 Paris, France"},{"name":"Reference Center of Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Department of Endocrinology, AP-HP Saint-Antoine Hospital, 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franck","family":"Boccara","sequence":"additional","affiliation":[{"name":"Inserm UMRS938, Saint-Antoine Research Center, Sorbonne University, 75012 Paris, France"},{"name":"National Institute of Health and Medical Research, Department of Cardiology, AP-HP Saint-Antoine Hospital, 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"J\u00e9ru","sequence":"additional","affiliation":[{"name":"Inserm UMRS938, Saint-Antoine Research Center, Sorbonne University, 75012 Paris, France"},{"name":"Department of Molecular Biology and Genetics, AP-HP Saint-Antoine Hospital, 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Lascols","sequence":"additional","affiliation":[{"name":"Inserm UMRS938, Saint-Antoine Research Center, Sorbonne University, 75012 Paris, France"},{"name":"Department of Molecular Biology and Genetics, AP-HP Saint-Antoine Hospital, 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Christine","family":"Vantyghem","sequence":"additional","affiliation":[{"name":"Inserm U1190\u2014EGID (European Genomic Institute for Diabetes), Endocrinology, Diabetology and Metabolism Department, CHU Lille, 59000 Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"F\u00e8ve","sequence":"additional","affiliation":[{"name":"Inserm UMRS938, Saint-Antoine Research Center, Sorbonne University, 75012 Paris, France"},{"name":"Reference Center of Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Department of Endocrinology, AP-HP Saint-Antoine Hospital, 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Donadille","sequence":"additional","affiliation":[{"name":"Inserm UMRS938, Saint-Antoine Research Center, Sorbonne University, 75012 Paris, France"},{"name":"Reference Center of Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Department of Endocrinology, AP-HP Saint-Antoine Hospital, 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Sarrazin","sequence":"additional","affiliation":[{"name":"Reference Center of Neuromuscular Rare Diseases, CHU Fort de France, Pierre Zobda Quitman Hospital, 97200 Martinique, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Benabbou","sequence":"additional","affiliation":[{"name":"Cardiology Department, CHU Fort de France, Pierre Zobda Quitman Hospital, 97200 Martinique, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jocelyn","family":"Inamo","sequence":"additional","affiliation":[{"name":"Cardiology Department, CHU Fort de France, Pierre Zobda Quitman Hospital, 97200 Martinique, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Ederhy","sequence":"additional","affiliation":[{"name":"National Institute of Health and Medical Research, Department of Cardiology, AP-HP Saint-Antoine Hospital, 75012 Paris, France"},{"name":"Inserm UMRS1166, Sorbonne University, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariel","family":"Cohen","sequence":"additional","affiliation":[{"name":"National Institute of Health and Medical Research, Department of Cardiology, AP-HP Saint-Antoine Hospital, 75012 Paris, France"},{"name":"Inserm UMRS1166, Sorbonne University, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Neraud","sequence":"additional","affiliation":[{"name":"Department of Internal Medecine, Foch Hospital, 92150 Suresnes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Richard","sequence":"additional","affiliation":[{"name":"Inserm UMRS1166, Sorbonne University, 75013 Paris, France"},{"name":"AP-HP Piti\u00e9 Salp\u00eatri\u00e8re-Charles Foix University Hospital, Functional Unit of Molecular and Cellular Cardiogenetics and Myogenetics, Department of Metabolic Biochemistry, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabien","family":"Picard","sequence":"additional","affiliation":[{"name":"AP-HP Cochin Hospital, Cardiology Department, FILNEMUS, Paris-Descartes, Sorbonne Paris Cite\u00e9 University, 75006 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Christin-Maitre","sequence":"additional","affiliation":[{"name":"Reference Center of Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Department of Endocrinology, AP-HP Saint-Antoine Hospital, 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alban","family":"Redheuil","sequence":"additional","affiliation":[{"name":"AP-HP\/LIB (INSERM-CNRS- Sorbonne University)\/ICAN Imaging Core Lab, Institute of Cardiology, AP-HP Piti\u00e9 Salp\u00eatri\u00e8re Hospital, Department of Cardiovascular Imaging, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karim","family":"Wahbi","sequence":"additional","affiliation":[{"name":"AP-HP Cochin Hospital, Cardiology Department, FILNEMUS, Paris-Descartes, Sorbonne Paris Cite\u00e9 University, 75006 Paris, France"},{"name":"Paris Cardiovascular Research Centre (PARCC), Inserm UMRS970, 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Vigouroux","sequence":"additional","affiliation":[{"name":"Inserm UMRS938, Saint-Antoine Research Center, Sorbonne University, 75012 Paris, France"},{"name":"Reference Center of Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Department of Endocrinology, AP-HP Saint-Antoine Hospital, 75012 Paris, France"},{"name":"Department of Molecular Biology and Genetics, AP-HP Saint-Antoine Hospital, 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,3,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1002\/path.2999","article-title":"Nuclear lamins and laminopathies","volume":"226","author":"Worman","year":"2012","journal-title":"J. Pathol."},{"key":"ref_2","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":"Gruenbaum","year":"2018","journal-title":"Trends Cell Biol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1242\/dmm.006346","article-title":"LMNA cardiomyopathy: Cell biology and genetics meet clinical medicine","volume":"4","author":"Lu","year":"2011","journal-title":"Dis. Model. Mech."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"2162","DOI":"10.1161\/ATVBAHA.113.301933","article-title":"Lipodystrophy-linked LMNA p. R482W mutation induces clinical early atherosclerosis and in vitro endothelial dysfunction","volume":"33","author":"Bidault","year":"2013","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"2225","DOI":"10.1161\/01.CIR.103.18.2225","article-title":"Premature atherosclerosis associated with monogenic insulin resistance","volume":"103","author":"Hegele","year":"2001","journal-title":"Circulation"},{"key":"ref_6","first-page":"235","article-title":"Lipodystrophic syndromes due to LMNA mutations: Recent developments on biomolecular aspects, pathophysiological hypotheses and therapeutic perspectives","volume":"9","author":"Vigouroux","year":"2018","journal-title":"Nucl. Austin Tex"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1210\/jc.2002-021506","article-title":"A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy","volume":"88","author":"Caux","year":"2003","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"4971","DOI":"10.1210\/jc.2009-0472","article-title":"Atypical progeroid syndrome due to heterozygous missense LMNA mutations","volume":"94","author":"Garg","year":"2009","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"2603","DOI":"10.1002\/ajmg.a.31346","article-title":"Hutchinson-Gilford progeria syndrome: Review of the phenotype","volume":"140","author":"Hennekam","year":"2006","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1111\/j.1399-0004.2005.00447.x","article-title":"LMNA mutation position predicts organ system involvement in laminopathies: Organ system involvement in laminopathies","volume":"68","author":"Hegele","year":"2005","journal-title":"Clin. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1786","DOI":"10.1091\/mbc.E18-10-0672","article-title":"The structural and gene expression hypotheses in laminopathic diseases-not so different after all","volume":"30","author":"Foisner","year":"2019","journal-title":"Mol. Biol. Cell"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1146\/annurev-physiol-021317-121454","article-title":"Aging in the Cardiovascular System: Lessons from Hutchinson-Gilford Progeria Syndrome","volume":"80","author":"Hamczyk","year":"2018","journal-title":"Annu. Rev. Physiol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1016\/j.diabet.2018.09.006","article-title":"Cardiometabolic assessment of lamin A\/C gene mutation carriers: A phenotype-genotype correlation","volume":"45","author":"Kwapich","year":"2019","journal-title":"Diabetes Metab."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1016\/S0002-9343(02)01070-7","article-title":"Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A\/C gene","volume":"112","author":"Garg","year":"2002","journal-title":"Am. J. Med."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1210\/jc.2017-02078","article-title":"A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p. T10I Mutation","volume":"103","author":"Hussain","year":"2018","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1532-429X-13-30","article-title":"Late gadolinium enhanced cardiovascular magnetic resonance of lamin A\/C gene mutation related dilated cardiomyopathy","volume":"13","author":"Jurkko","year":"2011","journal-title":"J. Cardiovasc. Magn. Reson."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"2881","DOI":"10.1002\/ajmg.a.35557","article-title":"An inherited LMNA gene mutation in atypical Progeria syndrome","volume":"158","author":"Doubaj","year":"2012","journal-title":"Am. J. Med. Genet. A."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"2301","DOI":"10.1161\/ATVBAHA.110.209460","article-title":"Cardiovascular pathology in Hutchinson-Gilford progeria: Correlation with the vascular pathology of aging","volume":"30","author":"Olive","year":"2010","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1038\/nature01629","article-title":"Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome","volume":"423","author":"Eriksson","year":"2003","journal-title":"Nature"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"2055","DOI":"10.1126\/science.1084125","article-title":"Lamin a truncation in Hutchinson-Gilford progeria","volume":"300","author":"Bernard","year":"2003","journal-title":"Science"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1687","DOI":"10.1001\/jama.2018.3264","article-title":"Association of Lonafarnib Treatment vs. No Treatment with Mortality Rate in Patients with Hutchinson-Gilford Progeria Syndrome","volume":"319","author":"Gordon","year":"2018","journal-title":"JAMA"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1038\/nm1786","article-title":"Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging","volume":"14","author":"Varela","year":"2008","journal-title":"Nat. Med."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"15902","DOI":"10.1073\/pnas.0807840105","article-title":"A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model","volume":"105","author":"Capell","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1016\/j.atherosclerosis.2015.12.012","article-title":"LMNA mutations resulting in lipodystrophy and HIV protease inhibitors trigger vascular smooth muscle cell senescence and calcification: Role of ZMPSTE24 downregulation","volume":"245","author":"Afonso","year":"2016","journal-title":"Atherosclerosis"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"2200","DOI":"10.1161\/CIRCULATIONAHA.109.902056","article-title":"Prelamin A acts to accelerate smooth muscle cell senescence and is a novel biomarker of human vascular aging","volume":"121","author":"Ragnauth","year":"2010","journal-title":"Circulation"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1698","DOI":"10.1042\/BST20110657","article-title":"Prelamin A-mediated nuclear envelope dynamics in normal and laminopathic cells","volume":"39","author":"Lattanzi","year":"2011","journal-title":"Biochem. Soc. Trans."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.atherosclerosis.2014.08.036","article-title":"Prelamin A accumulation in endothelial cells induces premature senescence and functional impairment","volume":"237","author":"Simoncini","year":"2014","journal-title":"Atherosclerosis"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"E856","DOI":"10.1210\/jc.2010-2234","article-title":"A homozygous mutation of prelamin-A preventing its farnesylation and maturation leads to a severe lipodystrophic phenotype: New insights into the pathogenicity of nonfarnesylated prelamin-A","volume":"96","author":"Schneebeli","year":"2011","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1111\/j.1582-4934.2009.00690.x","article-title":"The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress","volume":"13","author":"Verstraeten","year":"2009","journal-title":"J. Cell. Mol. Med."},{"key":"ref_30","first-page":"E7250","article-title":"Cardiac electrical defects in progeroid mice and Hutchinson-Gilford progeria syndrome patients with nuclear lamina alterations","volume":"113","author":"Calvo","year":"2016","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_31","first-page":"468","article-title":"Lamin and the heart","volume":"104","author":"Captur","year":"2018","journal-title":"Heart Br. Card. Soc."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"e126315","DOI":"10.1172\/jci.insight.126315","article-title":"Prelamin A mediates myocardial inflammation in dilated and HIV-associated cardiomyopathies","volume":"4","author":"Brayson","year":"2019","journal-title":"JCI Insight"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"2443","DOI":"10.1016\/j.ajpath.2011.07.049","article-title":"Lipodystrophy Study Group LMNA mutations induce a non-inflammatory fibrosis and a brown fat-like dystrophy of enlarged cervical adipose tissue","volume":"179","author":"Cervera","year":"2011","journal-title":"Am. J. Pathol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1194\/jlr.M071381","article-title":"Extracellular matrix remodeling and transforming growth factor-\u03b2 signaling abnormalities induced by lamin A\/C variants that cause lipodystrophy","volume":"58","author":"Wu","year":"2017","journal-title":"J. Lipid Res."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"2220","DOI":"10.1093\/hmg\/ddw090","article-title":"ERK1\/2 directly acts on CTGF\/CCN2 expression to mediate myocardial fibrosis in cardiomyopathy caused by mutations in the lamin A\/C gene","volume":"25","author":"Chatzifrangkeskou","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/s00109-004-0589-1","article-title":"Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: Do lamin A\/C mutations portend a high risk of sudden death?","volume":"83","author":"Bonne","year":"2005","journal-title":"J. Mol. Med."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"2299","DOI":"10.1016\/j.jacc.2016.08.058","article-title":"Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A\/C Mutation Carriers","volume":"68","author":"Kumar","year":"2016","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1161\/CIRCULATIONAHA.118.039410","article-title":"Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies","volume":"140","author":"Wahbi","year":"2019","journal-title":"Circulation"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1016\/j.ahj.2014.12.021","article-title":"Metabolic and cardiac phenotype characterization in 37 atypical Dunnigan patients with nonfarnesylated mutated prelamin A","volume":"169","author":"Andre","year":"2015","journal-title":"Am. Heart J."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"4835","DOI":"10.1210\/jc.2007-0654","article-title":"New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome","volume":"92","author":"Decaudain","year":"2007","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1097\/MD.0b013e3181e9442f","article-title":"Cardiomyopathy in congenital and acquired generalized lipodystrophy: A clinical assessment","volume":"89","author":"Lupsa","year":"2010","journal-title":"Medicine"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1212\/WNL.59.4.620","article-title":"Lamin A\/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy","volume":"59","author":"Bonne","year":"2002","journal-title":"Neurology"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1016\/j.repc.2016.07.018","article-title":"Complex phenotype linked to a mutation in exon 11 of the lamin A\/C gene: Hypertrophic cardiomyopathy, atrioventricular block, severe dyslipidemia and diabetes","volume":"36","author":"Francisco","year":"2017","journal-title":"Rev. Port. Cardiol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1111\/j.1365-2265.2007.03146.x","article-title":"A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy","volume":"69","author":"Lattanzi","year":"2008","journal-title":"Clin. Endocrinol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1016\/j.amjcard.2013.05.036","article-title":"Cardiac steatosis and left ventricular hypertrophy in patients with generalized lipodystrophy as determined by magnetic resonance spectroscopy and imaging","volume":"112","author":"Nelson","year":"2013","journal-title":"Am. J. Cardiol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1186\/s13098-015-0024-5","article-title":"Evaluation of epicardial adipose tissue in familial partial lipodystrophy","volume":"7","author":"Zagury","year":"2015","journal-title":"Diabetol. Metab. Syndr."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1111\/j.1399-0004.2009.01350.x","article-title":"Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A\/C mutations","volume":"78","author":"Subramanyam","year":"2010","journal-title":"Clin. Genet."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1002\/mus.21443","article-title":"Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement","volume":"41","author":"Carboni","year":"2010","journal-title":"Muscle Nerve"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1715","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","year":"1999","journal-title":"N. Engl. J. Med."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1093\/hmg\/ddy055","article-title":"The lipodystrophic hotspot lamin A p. R482W mutation deregulates the mesodermal inducer T\/Brachyury and early vascular differentiation gene networks","volume":"27","author":"Briand","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"2731","DOI":"10.1083\/jcb.201701043","article-title":"A lipodystrophy-causing lamin A mutant alters conformation and epigenetic regulation of the anti-adipogenic MIR335 locus","volume":"216","author":"Oldenburg","year":"2017","journal-title":"J. Cell Biol."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1186\/s13059-016-1146-2","article-title":"Chrom3D: Three-dimensional genome modeling from Hi-C and nuclear lamin-genome contacts","volume":"18","author":"Paulsen","year":"2017","journal-title":"Genome Biol."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"335ra58","DOI":"10.1126\/scitranslmed.aad4991","article-title":"Laminopathies disrupt epigenomic developmental programs and cell fate","volume":"8","author":"Perovanovic","year":"2016","journal-title":"Sci. Transl. Med."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1161\/CIRCRESAHA.118.313237","article-title":"Emerging Roles of Vascular Endothelium in Metabolic Homeostasis","volume":"123","author":"Pi","year":"2018","journal-title":"Circ. Res."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1038\/s41467-020-14387-w","article-title":"Endothelial progeria induces adipose tissue senescence and impairs insulin sensitivity through senescence associated secretory phenotype","volume":"11","author":"Barinda","year":"2020","journal-title":"Nat. Commun."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1038\/s41556-018-0038-y","article-title":"Emerging views of the nucleus as a cellular mechanosensor","volume":"20","author":"Kirby","year":"2018","journal-title":"Nat. Cell Biol."},{"key":"ref_57","first-page":"2707","article-title":"Clinical Manifestations and Long-Term Mortality in Lamin A\/C Mutation Carriers from a Japanese Multicenter Registry","volume":"82","author":"Nakajima","year":"2018","journal-title":"Circ. J. Off. J. Jpn. Circ. Soc."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"4500","DOI":"10.1210\/jc.2016-2466","article-title":"The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline","volume":"101","author":"Brown","year":"2016","journal-title":"J. Clin. Endocrinol. 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