{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:22:50Z","timestamp":1791332570191,"version":"4.3.1"},"reference-count":42,"publisher":"The Endocrine Society","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2007,12,1]]},"DOI":"10.1210\/jc.2007-0654","type":"journal-article","created":{"date-parts":[[2007,8,22]],"date-time":"2007-08-22T00:25:33Z","timestamp":1187742333000},"page":"4835-4844","source":"Crossref","is-referenced-by-count":144,"title":["New Metabolic Phenotypes in Laminopathies:<i>LMNA<\/i>Mutations in Patients with Severe Metabolic Syndrome"],"prefix":"10.1210","volume":"92","author":[{"given":"Aure\u0301lie","family":"Decaudain","sequence":"first","affiliation":[{"name":"Universite\u0301 Pierre et Marie Curie-Paris6, Faculte de Me\u0301decine, UMR 5680 (A.D., M.A., B.D., V.B., J.C., O.L., C.V.), Paris, F-75012 France"},{"name":"INSERM U680 (A.D., M.A., B.D., V.B., J.C., O.L., C.V.), Paris, F-75012 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Christine","family":"Vantyghem","sequence":"additional","affiliation":[{"name":"Service d\u2019Endocrinologie et Maladies Me\u0301taboliques (M.-C.V.), Centre Hospitalier Universitaire (CHU) de Lille, F-59037 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Guerci","sequence":"additional","affiliation":[{"name":"Ho\u0302pital Jeanne d\u2019Arc (B.G.), Service de Diabe\u0301tologie, Endocrinologie et Nutrition, CHU Nancy, F-54201 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie-Claude","family":"He\u0301cart","sequence":"additional","affiliation":[{"name":"Service d\u2019Endocrinologie, Maladies Me\u0301taboliques et Me\u0301decine Interne (A.-C.H.), CHU de Reims, F-51092 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Auclair","sequence":"additional","affiliation":[{"name":"Universite\u0301 Pierre et Marie Curie-Paris6, Faculte de Me\u0301decine, UMR 5680 (A.D., M.A., B.D., V.B., J.C., O.L., C.V.), Paris, F-75012 France"},{"name":"INSERM U680 (A.D., M.A., B.D., V.B., J.C., O.L., C.V.), Paris, F-75012 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"Reznik","sequence":"additional","affiliation":[{"name":"Service d\u2019Endocrinologie et Maladies Me\u0301taboliques (Y.R.), CHU Co\u0302te de Nacre, F-14033 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Herve\u0301","family":"Narbonne","sequence":"additional","affiliation":[{"name":"Ho\u0302pital Sainte Marguerite, Assistance Publique-Ho\u0302pitaux de Marseille, Service de Nutrition, Maladies Me\u0301taboliques, Endocrinologie (H.N.), F-13274 Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre-Henri","family":"Ducluzeau","sequence":"additional","affiliation":[{"name":"Centre de Recherche en Nutrition Humaine (P.-H.D.), Hospices Civils, Lyon, F-69002 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Donadille","sequence":"additional","affiliation":[{"name":"Universite\u0301 Pierre et Marie Curie-Paris6, Faculte de Me\u0301decine, UMR 5680 (A.D., M.A., B.D., V.B., J.C., O.L., C.V.), Paris, F-75012 France"},{"name":"INSERM U680 (A.D., M.A., B.D., V.B., J.C., O.L., C.V.), Paris, F-75012 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ce\u0301leste","family":"Lebbe\u0301","sequence":"additional","affiliation":[{"name":"AP-HP, Ho\u0302pital Saint-Louis (C.L.), Service de Dermatologie, Paris, F-75010 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ve\u0301ronique","family":"Be\u0301re\u0301ziat","sequence":"additional","affiliation":[{"name":"Universite\u0301 Pierre et Marie Curie-Paris6, Faculte de Me\u0301decine, UMR 5680 (A.D., M.A., B.D., V.B., J.C., O.L., C.V.), Paris, F-75012 France"},{"name":"INSERM U680 (A.D., M.A., B.D., V.B., J.C., O.L., C.V.), Paris, F-75012 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline","family":"Capeau","sequence":"additional","affiliation":[{"name":"AP-HP, Ho\u0302pital Tenon, Service de Biochimie et d\u2019Hormonologie (J.C., C.V.), Paris, F-75020 France"},{"name":"Universite\u0301 Pierre et Marie Curie-Paris6, Faculte de Me\u0301decine, UMR 5680 (A.D., M.A., B.D., V.B., J.C., O.L., C.V.), Paris, F-75012 France"},{"name":"INSERM U680 (A.D., M.A., B.D., V.B., J.C., O.L., C.V.), Paris, F-75012 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Lascols","sequence":"additional","affiliation":[{"name":"AP-HP, Ho\u0302pital Saint-Antoine, De\u0301partement de Biologie Mole\u0301culaire (O.L.), F-75571 Paris, France"},{"name":"Universite\u0301 Pierre et Marie Curie-Paris6, Faculte de Me\u0301decine, UMR 5680 (A.D., M.A., B.D., V.B., J.C., O.L., C.V.), Paris, F-75012 France"},{"name":"INSERM U680 (A.D., M.A., B.D., V.B., J.C., O.L., C.V.), Paris, F-75012 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Vigouroux","sequence":"additional","affiliation":[{"name":"AP-HP, Ho\u0302pital Tenon, Service de Biochimie et d\u2019Hormonologie (J.C., C.V.), Paris, F-75020 France"},{"name":"Universite\u0301 Pierre et Marie Curie-Paris6, Faculte de Me\u0301decine, UMR 5680 (A.D., M.A., B.D., V.B., J.C., O.L., C.V.), Paris, F-75012 France"},{"name":"INSERM U680 (A.D., M.A., B.D., V.B., J.C., O.L., C.V.), Paris, F-75012 France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"key\n\t\t\t\t2019041113524203000_R1","doi-asserted-by":"crossref","first-page":"16321","DOI":"10.1016\/S0021-9258(19)85424-8","article-title":"Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C.","volume":"268","author":"Lin","year":"1993","journal-title":"J Biol Chem"},{"key":"key\n\t\t\t\t2019041113524203000_R2","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/j.ceb.2006.03.007","article-title":"Nuclear lamins, diseases and aging.","volume":"18","author":"Mattout","year":"2006","journal-title":"Curr Opin Cell Biol"},{"key":"key\n\t\t\t\t2019041113524203000_R3","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"},{"key":"key\n\t\t\t\t2019041113524203000_R4","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1093\/hmg\/9.9.1453","article-title":"Identification of mutations in the gene encoding lamins A\/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).","volume":"9","author":"Muchir","year":"2000","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t2019041113524203000_R5","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":"key\n\t\t\t\t2019041113524203000_R6","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1086\/339274","article-title":"Homozygous defects in LMNA, encoding lamin A\/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.","volume":"70","author":"De Sandre-Giovannoli","year":"2002","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t2019041113524203000_R7","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1093\/hmg\/9.1.109","article-title":"Nuclear lamin A\/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy.","volume":"9","author":"Cao","year":"2000","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t2019041113524203000_R8","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1038\/72807","article-title":"LMNA, encoding lamin A\/C, is mutated in partial lipodystrophy.","volume":"24","author":"Shackleton","year":"2000","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t2019041113524203000_R9","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1086\/341908","article-title":"Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A\/C.","volume":"71","author":"Novelli","year":"2002","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t2019041113524203000_R10","doi-asserted-by":"crossref","first-page":"2055","DOI":"10.1126\/science.1084125","article-title":"Lamin a truncation in Hutchinson-Gilford progeria","volume":"300","author":"De Sandre-Giovannoli","year":"2003","journal-title":"Science"},{"key":"key\n\t\t\t\t2019041113524203000_R11","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":"key\n\t\t\t\t2019041113524203000_R12","doi-asserted-by":"crossref","first-page":"2493","DOI":"10.1093\/hmg\/ddh265","article-title":"Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.","volume":"13","author":"Navarro","year":"2004","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t2019041113524203000_R13","doi-asserted-by":"crossref","first-page":"1958","DOI":"10.2337\/diabetes.49.11.1958","article-title":"Lamin A\/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy.","volume":"49","author":"Vigouroux","year":"2000","journal-title":"Diabetes"},{"key":"key\n\t\t\t\t2019041113524203000_R14","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1086\/302836","article-title":"Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A\/C.","volume":"66","author":"Speckman","year":"2000","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t2019041113524203000_R15","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1161\/01.ATV.0000136392.59656.8b","article-title":"Laminopathies and atherosclerosis.","volume":"24","author":"Al-Shali","year":"2004","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"key\n\t\t\t\t2019041113524203000_R16","doi-asserted-by":"crossref","first-page":"2218","DOI":"10.1111\/j.1572-0241.2005.00234.x","article-title":"Hepatic steatosis in Dunnigan-type familial partial lipodystrophy.","volume":"100","author":"Ludtke","year":"2005","journal-title":"Am J Gastroenterol"},{"key":"key\n\t\t\t\t2019041113524203000_R17","doi-asserted-by":"crossref","first-page":"5337","DOI":"10.1210\/jc.2003-031658","article-title":"Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities.","volume":"89","author":"Vantyghem","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113524203000_R18","doi-asserted-by":"crossref","first-page":"2821","DOI":"10.1210\/jc.2002-021575","article-title":"Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy.","volume":"88","author":"Simha","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113524203000_R19","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":"key\n\t\t\t\t2019041113524203000_R20","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":"van der Kooi","year":"2002","journal-title":"Neurology"},{"key":"key\n\t\t\t\t2019041113524203000_R21","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 \u03b1-helical rod domains of the lamin A\/C gene.","volume":"112","author":"Garg","year":"2002","journal-title":"Am J Med"},{"key":"key\n\t\t\t\t2019041113524203000_R22","doi-asserted-by":"crossref","first-page":"2689","DOI":"10.1210\/jc.2005-2746","article-title":"A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2.","volume":"91","author":"Morel","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113524203000_R23","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":"key\n\t\t\t\t2019041113524203000_R24","doi-asserted-by":"crossref","first-page":"6699","DOI":"10.1210\/jc.2005-0939","article-title":"Phenotypic heterogeneity in body fat distribution in patients with atypical Werner\u2019s syndrome due to heterozygous Arg133Leu lamin A\/C mutation.","volume":"90","author":"Jacob","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113524203000_R25","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1210\/jc.2005-1297","article-title":"A homozygous mutation in the lamin A\/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.","volume":"91","author":"Van Esch","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113524203000_R26","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/S0140-6736(03)14069-X","article-title":"LMNA mutations in atypical Werner\u2019s syndrome.","volume":"362","author":"Chen","year":"2003","journal-title":"Lancet"},{"key":"key\n\t\t\t\t2019041113524203000_R27","first-page":"59","article-title":"Phenotypic heterogeneity in patients with familial partial lipodystrophy (Dunnigan variety) related to the site of missense mutations in lamin A\/C gene.","volume":"86","author":"Garg","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113524203000_R28","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1007\/s00125-004-1360-4","article-title":"Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene.","volume":"47","author":"Savage","year":"2004","journal-title":"Diabetologia"},{"key":"key\n\t\t\t\t2019041113524203000_R29","doi-asserted-by":"crossref","first-page":"1873","DOI":"10.2337\/diabetes.54.6.1873","article-title":"Type A insulin resistance syndrome revealing a novel lamin A mutation.","volume":"54","author":"Young","year":"2005","journal-title":"Diabetes"},{"key":"key\n\t\t\t\t2019041113524203000_R30","doi-asserted-by":"crossref","first-page":"4459","DOI":"10.1242\/jcs.114.24.4459","article-title":"Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q\/W mutations in the lamin A\/C gene.","volume":"114","author":"Vigouroux","year":"2001","journal-title":"J Cell Sci"},{"key":"key\n\t\t\t\t2019041113524203000_R31","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/0168-8227(93)90079-K","article-title":"Study of the rate of early glucose disappearance following insulin injection: insulin sensitivity index.","volume":"20","author":"Grulet","year":"1993","journal-title":"Diabetes Res Clin Pract"},{"key":"key\n\t\t\t\t2019041113524203000_R32","first-page":"1776","article-title":"Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety).","volume":"85","author":"Garg","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113524203000_R33","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1055\/s-2003-38388","article-title":"Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A\/C R482W mutation.","volume":"35","author":"Araujo-Vilar","year":"2003","journal-title":"Horm Metab Res"},{"key":"key\n\t\t\t\t2019041113524203000_R34","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1016\/S0140-6736(05)67402-8","article-title":"The metabolic syndrome: a new worldwide definition.","volume":"366","author":"Alberti","year":"2005","journal-title":"Lancet"},{"key":"key\n\t\t\t\t2019041113524203000_R35","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1111\/j.1365-2265.2007.02870.x","article-title":"Familial partial lipodystrophy due to the LMNA R482W mutation with multinodular goiter, extrapyramidal syndrome and primary hyperaldosteronism.","volume":"67","author":"Vantyghem","year":"2007","journal-title":"Clin Endocrinol (Oxf)"},{"key":"key\n\t\t\t\t2019041113524203000_R36","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1016\/j.yexcr.2003.07.002","article-title":"Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A\/C gene.","volume":"291","author":"Muchir","year":"2003","journal-title":"Exp Cell Res"},{"key":"key\n\t\t\t\t2019041113524203000_R37","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1016\/j.jmb.2004.08.093","article-title":"Crystal structure of the human lamin A coil 2B dimer: implications for the head-to-tail association of nuclear lamins.","volume":"343","author":"Strelkov","year":"2004","journal-title":"J Mol Biol"},{"key":"key\n\t\t\t\t2019041113524203000_R38","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1111\/j.1399-0004.2007.00740.x","article-title":"Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).","volume":"71","author":"Lanktree","year":"2007","journal-title":"Clin Genet"},{"key":"key\n\t\t\t\t2019041113524203000_R39","doi-asserted-by":"crossref","first-page":"1350","DOI":"10.2337\/diacare.26.5.1350","article-title":"Risk factors for diabetes in familial partial lipodystrophy, Dunnigan variety.","volume":"26","author":"Haque","year":"2003","journal-title":"Diabetes Care"},{"key":"key\n\t\t\t\t2019041113524203000_R40","doi-asserted-by":"crossref","first-page":"690","DOI":"10.1001\/archneur.61.5.690","article-title":"Extreme variability of phenotype in patients with an identical missense mutation in the lamin A\/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.","volume":"61","author":"Mercuri","year":"2004","journal-title":"Arch Neurol"},{"key":"key\n\t\t\t\t2019041113524203000_R41","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.","volume":"68","author":"Hegele","year":"2005","journal-title":"Clin Genet"},{"key":"key\n\t\t\t\t2019041113524203000_R42","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/1471-2342-7-3","article-title":"Quantitative and qualitative differences in subcutaneous adipose tissue stores across lipodystrophy types shown by magnetic resonance imaging","volume":"7","author":"Al-Attar","year":"2007","journal-title":"BMC Med Imaging"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/92\/12\/4835\/9054956\/jcem4835.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,22]],"date-time":"2021-08-22T03:48:04Z","timestamp":1629604084000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/92\/12\/4835\/2597703"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,12,1]]},"references-count":42,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2007,12,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2007-0654","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,12,1]]}}}