{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T14:09:03Z","timestamp":1790690943924,"version":"4.1.0"},"reference-count":152,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2023,2,24]],"date-time":"2023-02-24T00:00:00Z","timestamp":1677196800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI22\/00514"],"award-info":[{"award-number":["PI22\/00514"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["ED431B 2020\/37"],"award-info":[{"award-number":["ED431B 2020\/37"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010801","name":"Xunta de Galicia","doi-asserted-by":"publisher","award":["PI22\/00514"],"award-info":[{"award-number":["PI22\/00514"]}],"id":[{"id":"10.13039\/501100010801","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010801","name":"Xunta de Galicia","doi-asserted-by":"publisher","award":["ED431B 2020\/37"],"award-info":[{"award-number":["ED431B 2020\/37"]}],"id":[{"id":"10.13039\/501100010801","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Research Fellowship by the Asociaci\u00f3n Espa\u00f1ola de Familiares y Afectados de Lipodistrofias (AELIP)","award":["PI22\/00514"],"award-info":[{"award-number":["PI22\/00514"]}]},{"name":"Research Fellowship by the Asociaci\u00f3n Espa\u00f1ola de Familiares y Afectados de Lipodistrofias (AELIP)","award":["ED431B 2020\/37"],"award-info":[{"award-number":["ED431B 2020\/37"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Type 2 familial partial lipodystrophy (FPLD2) is a laminopathic lipodystrophy due to pathogenic variants in the LMNA gene. Its rarity implies that it is not well-known. The aim of this review was to explore the published data regarding the clinical characterisation of this syndrome in order to better describe FPLD2. For this purpose, a systematic review through a search on PubMed until December 2022 was conducted and the references of the retrieved articles were also screened. A total of 113 articles were included. FPLD2 is characterised by the loss of fat starting around puberty in women, affecting limbs and trunk, and its accumulation in the face, neck and abdominal viscera. This adipose tissue dysfunction conditions the development of metabolic complications associated with insulin resistance, such as diabetes, dyslipidaemia, fatty liver disease, cardiovascular disease, and reproductive disorders. However, a great degree of phenotypical variability has been described. Therapeutic approaches are directed towards the associated comorbidities, and recent treatment modalities have been explored. A comprehensive comparison between FPLD2 and other FPLD subtypes can also be found in the present review. This review aimed to contribute towards augmenting knowledge of the natural history of FPLD2 by bringing together the main clinical research in this field.<\/jats:p>","DOI":"10.3390\/cells12050725","type":"journal-article","created":{"date-parts":[[2023,2,27]],"date-time":"2023-02-27T04:05:40Z","timestamp":1677470740000},"page":"725","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1268-7538","authenticated-orcid":false,"given":"Antia","family":"Fernandez-Pombo","sequence":"first","affiliation":[{"name":"UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain"},{"name":"Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5202-638X","authenticated-orcid":false,"given":"Everardo Josue","family":"Diaz-Lopez","sequence":"additional","affiliation":[{"name":"UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain"},{"name":"Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana I.","family":"Castro","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain"},{"name":"CIBER Fisiopatolog\u00eda de la Obesidad y la Nutrici\u00f3n (CIBERobn), 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3887-0573","authenticated-orcid":false,"given":"Sofia","family":"Sanchez-Iglesias","sequence":"additional","affiliation":[{"name":"UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0941-626X","authenticated-orcid":false,"given":"Silvia","family":"Cobelo-Gomez","sequence":"additional","affiliation":[{"name":"UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Prado-Mora\u00f1a","sequence":"additional","affiliation":[{"name":"UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain"},{"name":"Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2852-7851","authenticated-orcid":false,"given":"David","family":"Araujo-Vilar","sequence":"additional","affiliation":[{"name":"UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain"},{"name":"Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,2,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1152\/physrev.00047.2005","article-title":"Nuclear lamins: Laminopathies and their role in premature ageing","volume":"86","author":"Broers","year":"2006","journal-title":"Physiol. Rev."},{"key":"ref_2","first-page":"249","article-title":"Lipodystrophic laminopathies: Diagnostic clues","volume":"9","year":"2018","journal-title":"Nucleus"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"2617","DOI":"10.1002\/ajmg.a.34249","article-title":"N\u00e9stor-Guillermo progeria syndrome: A novel premature aging condition with early onset and chronic development caused by BANF1 mutations","volume":"155A","author":"Cabanillas","year":"2011","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_4","first-page":"170","article-title":"Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety)","volume":"84","author":"Garg","year":"1999","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_5","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":"ref_6","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":"ref_7","doi-asserted-by":"crossref","first-page":"104071","DOI":"10.1016\/j.lpm.2021.104071","article-title":"Familial partial lipodystrophy syndromes","volume":"50","year":"2021","journal-title":"Presse Med."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"n71","DOI":"10.1136\/bmj.n71","article-title":"The PRISMA 2020 statement: An updated guideline for reporting systematic reviews","volume":"372","author":"Page","year":"2021","journal-title":"BMJ"},{"key":"ref_9","first-page":"33","article-title":"Familial lipoatrophic diabetes with dominant transmission. A new syndrome","volume":"43","author":"Dunnigan","year":"1974","journal-title":"Q J. Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"375","DOI":"10.2147\/DMSO.S130810","article-title":"Estimating the prevalence of generalized and partial lipodystrophy: Findings and challenges","volume":"10","author":"Chiquette","year":"2017","journal-title":"Diabetes Metab. Syndr. Obes."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"79","DOI":"10.3389\/fgene.2017.00079","article-title":"LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes","volume":"8","author":"Florwick","year":"2017","journal-title":"Front. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"249","DOI":"10.2337\/db19-0447","article-title":"Geisinger-Regeneron DiscovEHR collaboration. Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort","volume":"69","author":"Ge","year":"2020","journal-title":"Diabetes"},{"key":"ref_13","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":"ref_14","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1093\/qjmed\/90.1.27","article-title":"Dunnigan-Kobberling syndrome: An autosomal dominant form of partial lipodystrophy","volume":"90","author":"Jackson","year":"1997","journal-title":"QJM"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1136\/jmg.23.2.120","article-title":"Familial partial lipodystrophy: Two types of an X linked dominant syndrome, lethal in the hemizygous state","volume":"23","author":"Dunnigan","year":"1986","journal-title":"J. Med. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1530\/EJE-21-0282","article-title":"A recurrent familial partial lipodystrophy due to a monoallelic or biallelic LMNA founder variant highlights the multifaceted cardiac manifestations of metabolic laminopathies","volume":"185","author":"Treiber","year":"2021","journal-title":"Eur. J. Endocrinol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/S0028-3843(14)60044-X","article-title":"Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family","volume":"44","author":"Drac","year":"2010","journal-title":"Neurol. Neurochir. Pol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1007\/BF01222107","article-title":"Metabolic studies in familial partial lipodystrophy of the lower trunk and extremities","volume":"11","author":"Davidson","year":"1975","journal-title":"Diabetologia"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s12276-019-0289-0","article-title":"Altered adipocyte differentiation and unbalanced autophagy in type 2 Familial Partial Lipodystrophy: An in vitro and in vivo study of adipose tissue browning","volume":"51","author":"Pellegrini","year":"2019","journal-title":"Exp. Mol. Med."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1111\/j.1365-2265.2011.04208.x","article-title":"Histological and molecular features of lipomatous and nonlipomatous adipose tissue in familial partial lipodystrophy caused by LMNA mutations","volume":"76","author":"Victoria","year":"2012","journal-title":"Clin. Endocrinol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1212\/01.wnl.0000255939.73424.f8","article-title":"Muscle and nerve pathology in Dunnigan familial partial lipodystrophy","volume":"68","author":"Spuler","year":"2007","journal-title":"Neurology"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1016\/j.nmd.2017.05.015","article-title":"Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study","volume":"27","author":"Akinci","year":"2017","journal-title":"Neuromuscul. Disord."},{"key":"ref_23","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":"ref_24","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1136\/jmg.23.2.128","article-title":"Partial lipoatrophy with insulin resistant diabetes and hyperlipidaemia (Dunnigan syndrome)","volume":"23","author":"Burn","year":"1986","journal-title":"J. Med. Genet."},{"key":"ref_25","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":"ref_26","first-page":"773","article-title":"Clinical, endocrine and metabolic studies in the kindred of familial partial lipodystrophy--a syndrome of insulin resistance","volume":"50","author":"Vaidya","year":"2002","journal-title":"J. Assoc. Physicians India"},{"key":"ref_27","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."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.1210\/jc.2018-01922","article-title":"Regional Body Fat Changes and Metabolic Complications in Children With Dunnigan Lipodystrophy-Causing LMNA Variants","volume":"104","author":"Patni","year":"2019","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_29","first-page":"3431","article-title":"Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy","volume":"85","author":"Hegele","year":"2000","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1111\/cen.13984","article-title":"Phenotypic diversity and glucocorticoid sensitivity in patients with familial partial lipodystrophy type 2","volume":"91","author":"Resende","year":"2019","journal-title":"Clin. Endocrinol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"83","DOI":"10.17116\/terarkh201587383-87","article-title":"[Familial partial lipodystrophy (Dunnigan syndrome) due to LMNA gene mutation: The first description of its clinical case in Russia]","volume":"87","author":"Sorkina","year":"2015","journal-title":"Ter Arkh"},{"key":"ref_32","doi-asserted-by":"crossref","unstructured":"Ara\u00fajo-Vilar, D., Fern\u00e1ndez-Pombo, A., Victoria, B., Mosquera-Orgueira, A., Cobelo-G\u00f3mez, S., Castro-Pais, A., Hermida-Ameijeiras, A., Loidi, L., and Sanchez-Iglesias, S. (2021). Variable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA Variant. J. Clin. Med., 10.","DOI":"10.3390\/jcm10071497"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1530\/EJE-12-0268","article-title":"Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations","volume":"167","author":"Mory","year":"2012","journal-title":"Eur. J. Endocrinol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"458","DOI":"10.3389\/fendo.2018.00458","article-title":"Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred","volume":"9","author":"Montenegro","year":"2018","journal-title":"Front. Endocrinol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"2810","DOI":"10.1002\/ajmg.a.32046","article-title":"The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy","volume":"143A","author":"Muschke","year":"2007","journal-title":"Am. J. Med. Genet. A."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.metabol.2017.04.010","article-title":"Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy","volume":"72","author":"Akinci","year":"2017","journal-title":"Metabolism"},{"key":"ref_37","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_38","doi-asserted-by":"crossref","first-page":"e79","DOI":"10.4158\/ACCR-2019-0366","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":"Adiyaman","year":"2020","journal-title":"AACE Clin. Case Rep."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"W602","DOI":"10.2214\/AJR.11.8110","article-title":"Quantitative whole-body MRI in familial partial lipodystrophy type 2: Changes in adipose tissue distribution coincide with biochemical improvement","volume":"199","author":"McLaughlin","year":"2012","journal-title":"AJR Am. J. Roentgenol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"136","DOI":"10.4103\/2230-8210.91209","article-title":"Body fat distribution in women with familial partial lipodystrophy caused by mutation in the lamin A\/C gene","volume":"16","author":"Monteiro","year":"2012","journal-title":"Indian J. Endocrinol. Metab."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1186\/s13098-018-0375-9","article-title":"Pancreatic fat deposition is increased and related to beta-cell function in women with familial partial lipodystrophy","volume":"10","author":"Valerio","year":"2018","journal-title":"Diabetol. Metab. Syndr."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.diabet.2018.08.003","article-title":"Irisin levels in LMNA-associated partial lipodystrophies","volume":"45","author":"Benomar","year":"2019","journal-title":"Diabetes Metab."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1111\/cen.13311","article-title":"Spectrum of disease associated with partial lipodystrophy: Lessons from a trial cohort","volume":"86","author":"Ajluni","year":"2017","journal-title":"Clin. Endocrinol."},{"key":"ref_44","doi-asserted-by":"crossref","unstructured":"Al-Attar, S.A., Pollex, R.L., Robinson, J.F., A Miskie, B., Walcarius, R., Little, C.H., Rutt, B.K., and Hegele, R.A. (2007). Quantitative and qualitative differences in subcutaneous adipose tissue stores across lipodystrophy types shown by magnetic resonance imaging. BMC. Med. Imaging, 7.","DOI":"10.1186\/1471-2342-7-3"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1016\/j.metabol.2009.03.001","article-title":"Predicting abdominal adipose tissue among women with familial partial lipodystrophy","volume":"58","author":"Joy","year":"2009","journal-title":"Metabolism"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"428","DOI":"10.5152\/dir.2017.17019","article-title":"Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy","volume":"23","author":"Altay","year":"2017","journal-title":"Diagn. Interv. Radiol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"bvac155","DOI":"10.1210\/jendso\/bvac155","article-title":"Phenotypic Differences Among Familial Partial Lipodystrophy Due to LMNA or PPARG Variants","volume":"6","author":"Vasandani","year":"2022","journal-title":"J. Endocr. Soc."},{"key":"ref_48","doi-asserted-by":"crossref","unstructured":"Al-Attar, S.A., Pollex, R.L., Robinson, J.F., A Miskie, B., Walcarius, R., Rutt, B.K., and Hegele, R.A. (2006). Semi-automated segmentation and quantification of adipose tissue in calf and thigh by MRI: A preliminary study in patients with monogenic metabolic syndrome. BMC. Med. Imaging, 6.","DOI":"10.1186\/1471-2342-6-11"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1445","DOI":"10.1111\/dme.13061","article-title":"Familial partial lipodystrophy linked to a novel peroxisome proliferator activator receptor -\u03b3 (PPARG) mutation, H449L: A comparison of people with this mutation and those with classic codon 482 Lamin A\/C (LMNA) mutations","volume":"33","author":"Demir","year":"2016","journal-title":"Diabet. Med."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"2132","DOI":"10.1210\/clinem\/dgaa137","article-title":"Diagnostic Value of Anthropometric Measurements for Familial Partial Lipodystrophy, Dunnigan Variety","volume":"105","author":"Vasandani","year":"2020","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/1758-5996-4-40","article-title":"Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: Finding new tools for an objective evaluation","volume":"4","author":"Valerio","year":"2012","journal-title":"Diabetol. Metab. Syndr."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1038\/oby.2011.343","article-title":"A new method for body fat evaluation, body adiposity index, is useful in women with familial partial lipodystrophy","volume":"20","author":"Moreira","year":"2012","journal-title":"Obesity"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"2255","DOI":"10.2337\/dc18-0978","article-title":"\u201cFat Shadows\u201d From DXA for the Qualitative Assessment of Lipodystrophy: When a Picture Is Worth a Thousand Numbers","volume":"41","author":"Meral","year":"2018","journal-title":"Diabetes Care"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"E1410","DOI":"10.1210\/jc.2013-1297","article-title":"Increased skeletal muscle volume in women with familial partial lipodystrophy, Dunnigan variety","volume":"98","author":"Ji","year":"2013","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1210\/clinem\/dgab725","article-title":"Impaired Muscle Mitochondrial Function in Familial Partial Lipodystrophy","volume":"107","author":"Simha","year":"2022","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_56","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_57","doi-asserted-by":"crossref","first-page":"2598","DOI":"10.1002\/ajmg.a.31983","article-title":"Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes","volume":"143A","author":"Kosho","year":"2007","journal-title":"Am. J. Med. Genet. A."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1016\/j.bone.2010.06.004","article-title":"Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24","volume":"47","author":"Cunningham","year":"2010","journal-title":"Bone"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1111\/1346-8138.12657","article-title":"First Japanese case of atypical progeroid syndrome\/atypical Werner syndrome with heterozygous LMNA mutation","volume":"41","author":"Motegi","year":"2014","journal-title":"J. Dermatol."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1111\/cen.13504","article-title":"Bone mineral density in familial partial lipodystrophy","volume":"88","author":"Castro","year":"2018","journal-title":"Clin. Endocrinol."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"1495","DOI":"10.1007\/s00256-016-2457-9","article-title":"Bone imaging findings in genetic and acquired lipodystrophic syndromes: An imaging study of 24 cases","volume":"45","author":"Miquel","year":"2016","journal-title":"Skeletal. Radiol."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1002\/oby.23049","article-title":"The Metabolic Equivalent BMI in Patients with Familial Partial Lipodystrophy (FPLD) Compared with Those with Severe Obesity","volume":"29","author":"Koo","year":"2021","journal-title":"Obesity"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1007\/s12020-016-1002-x","article-title":"Type 1 familial partial lipodystrophy: Understanding the K\u00f6bberling syndrome","volume":"54","author":"Pazos","year":"2016","journal-title":"Endocrine"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"1819","DOI":"10.2337\/diacare.26.6.1819","article-title":"K\u00f6bberling type of familial partial lipodystrophy: An underrecognized syndrome","volume":"26","author":"Herbst","year":"2003","journal-title":"Diabetes Care"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"5655","DOI":"10.1210\/jc.2004-0280","article-title":"A single-base mutation in the peroxisome proliferator-activated receptor gamma4 promoter associated with altered in vitro expression and partial lipodystrophy","volume":"89","author":"Cao","year":"2004","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1111\/j.1399-0004.2006.00674.x","article-title":"A frameshift mutation in peroxisome-proliferator-activated receptor-gamma in familial partial lipodystrophy subtype 3 (FPLD3; MIM 604367)","volume":"70","author":"Hegele","year":"2006","journal-title":"Clin. Genet."},{"key":"ref_67","doi-asserted-by":"crossref","unstructured":"Francis, G.A., Li, G., Casey, R., Wang, J., Cao, H., Leff, T., and Hegele, R.A. (2006). Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3). BMC Med. Genet., 7.","DOI":"10.1186\/1471-2350-7-3"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1161\/ATVBAHA.112.300962","article-title":"Peroxisome proliferator-activated receptor-\u03b3 mutations responsible for lipodystrophy with severe hypertension activate the cellular renin-angiotensin system","volume":"33","author":"Auclair","year":"2013","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1172\/JCI28003","article-title":"PPAR gamma and human metabolic disease","volume":"116","author":"Semple","year":"2006","journal-title":"J. Clin. Investig."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1056\/NEJMoa1007487","article-title":"Perilipin deficiency and autosomal dominant partial lipodystrophy","volume":"364","author":"Gandotra","year":"2011","journal-title":"N. Engl. J. Med."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"299","DOI":"10.2337\/db14-0104","article-title":"Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy","volume":"64","author":"Kozusko","year":"2015","journal-title":"Diabetes"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"3225","DOI":"10.1210\/jc.2017-02662","article-title":"PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy","volume":"103","author":"Laver","year":"2018","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"6025","DOI":"10.1210\/jc.2019-00849","article-title":"Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy","volume":"104","author":"Vantyghem","year":"2019","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1002\/emmm.200900037","article-title":"Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC","volume":"1","author":"Puri","year":"2009","journal-title":"EMBO Mol. Med."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"1649","DOI":"10.1016\/j.cjca.2014.09.007","article-title":"A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy","volume":"30","author":"Farhan","year":"2014","journal-title":"Can. J. Cardiol."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1002\/mus.24157","article-title":"A partial lipodystrophy associated with muscular dystrophy of unknown genetic origin","volume":"49","author":"Carboni","year":"2014","journal-title":"Muscle Nerve"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1002\/ajmg.a.37880","article-title":"Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy","volume":"173","author":"Zolotov","year":"2017","journal-title":"Am. J. Med. Genet. A."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1530\/EJE-20-1013","article-title":"LIPE-related lipodystrophic syndrome: Clinical features and disease modeling using adipose stem cells","volume":"184","author":"Sollier","year":"2021","journal-title":"Eur. J. Endocrinol."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1212\/WNL.58.1.43","article-title":"Familial lipodystrophy associated with neurodegeneration and congenital cataracts","volume":"58","author":"Berger","year":"2002","journal-title":"Neurology"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"1796","DOI":"10.1002\/ajmg.a.37115","article-title":"Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome","volume":"167A","author":"Garg","year":"2015","journal-title":"Am. J. Med. Genet. A."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1016\/j.molmet.2016.05.006","article-title":"Lack of AKT in adipocytes causes severe lipodystrophy","volume":"5","author":"Shearin","year":"2016","journal-title":"Mol. Metab."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1126\/science.1096706","article-title":"A family with severe insulin resistance and diabetes due to a mutation in AKT2","volume":"304","author":"George","year":"2004","journal-title":"Science"},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"8901","DOI":"10.1073\/pnas.1408523111","article-title":"Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease","volume":"111","author":"Payne","year":"2014","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"e86870","DOI":"10.1172\/jci.insight.86870","article-title":"Whole-exome sequencing identifies ADRA2A mutation in atypical familial partial lipodystrophy","volume":"1","author":"Garg","year":"2016","journal-title":"JCI Insight"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"e23813","DOI":"10.7554\/eLife.23813","article-title":"Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression","volume":"6","author":"Rocha","year":"2017","journal-title":"Elife"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"5109","DOI":"10.1093\/hmg\/ddv229","article-title":"Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy","volume":"24","author":"Sawyer","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"1420","DOI":"10.1016\/j.jacl.2018.07.009","article-title":"MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue","volume":"12","author":"Capel","year":"2018","journal-title":"J. Clin. Lipidol."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1111\/cen.14806","article-title":"Describing the natural history of clinical, biochemical and radiological outcomes of children with familial partial lipodystrophy type 2 (FPLD2) from the United Kingdom: A retrospective case series","volume":"97","author":"Zhong","year":"2022","journal-title":"Clin. Endocrinol."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1136\/jmedgenet-2016-104437","article-title":"LMNA-associated partial lipodystrophy: Anticipation of metabolic complications","volume":"54","author":"Jeru","year":"2017","journal-title":"J. Med. Genet."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"2641","DOI":"10.1007\/s00125-005-0038-x","article-title":"Adipokines and the insulin resistance syndrome in familial partial lipodystrophy caused by a mutation in lamin A\/C","volume":"48","author":"Wong","year":"2005","journal-title":"Diabetologia"},{"key":"ref_91","first-page":"3089","article-title":"LMNA R482Q mutation in partial lipodystrophy associated with reduced plasma leptin concentration","volume":"85","author":"Hegele","year":"2000","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1161\/01.ATV.0000047460.27435.B8","article-title":"Elevated serum C-reactive protein and free fatty acids among nondiabetic carriers of missense mutations in the gene encoding lamin A\/C (LMNA) with partial lipodystrophy","volume":"23","author":"Hegele","year":"2003","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"2395","DOI":"10.1210\/jcem.87.5.8624","article-title":"Serum adiponectin and leptin levels in patients with lipodystrophies","volume":"87","author":"Haque","year":"2002","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"101409","DOI":"10.1016\/j.diabet.2022.101409","article-title":"Lipoatrophic diabetes in familial partial lipodystrophy type 2: From insulin resistance to diabetes","volume":"49","author":"Treiber","year":"2022","journal-title":"Diabetes Metab."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1186\/s13098-017-0301-6","article-title":"Endoplasmic reticulum stress activation in adipose tissue induces metabolic syndrome in individuals with familial partial lipodystrophy of the Dunnigan type","volume":"10","author":"Ferraz","year":"2018","journal-title":"Diabetol. Metab. Syndr."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1016\/j.clinbiochem.2009.03.006","article-title":"Serum retinol binding protein 4 in patients with familial partial lipodystrophy","volume":"42","author":"Moreira","year":"2009","journal-title":"Clin. Biochem."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"1634","DOI":"10.1210\/jc.2009-1293","article-title":"LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance","volume":"95","author":"Boschmann","year":"2010","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_98","first-page":"40","article-title":"Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy","volume":"46","author":"Lattanzi","year":"2009","journal-title":"J. Med. Genet."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/S0026-0495(97)90295-X","article-title":"Insulin resistance in limb and trunk partial lipodystrophy (type 2 K\u00f6bberling-Dunnigan syndrome)","volume":"46","author":"UUrsich","year":"1997","journal-title":"Metabolism"},{"key":"ref_100","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":"Loidi","year":"2003","journal-title":"Horm. Metab. Res."},{"key":"ref_101","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":"ref_102","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":"ref_103","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1590\/S0004-27302013000800002","article-title":"Biochemical, hormonal and genetic evaluation of the families of two Brazilian patients with type 2 familial partial lipodystrophy","volume":"57","author":"Caldas","year":"2013","journal-title":"Arq. Bras. Endocrinol. Metabol."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1016\/j.jacl.2021.07.004","article-title":"Prevalence of severe hypertriglyceridemia and pancreatitis in familial partial lipodystrophy type 2","volume":"15","author":"Lazarte","year":"2021","journal-title":"J. Clin. Lipidol."},{"key":"ref_105","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":"ref_106","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":"ref_107","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.ejim.2015.12.012","article-title":"A case of familial partial lipodystrophy caused by a novel lamin A\/C (LMNA) mutation in exon 1 (D47N)","volume":"29","author":"Kutbay","year":"2016","journal-title":"Eur. J. Intern. Med."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1046\/j.1464-5491.2002.00796.x","article-title":"Post-mortem findings in familial partial lipodystrophy, Dunnigan variety","volume":"19","author":"Haque","year":"2002","journal-title":"Diabetes Med."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"306","DOI":"10.5603\/EP.2013.0010","article-title":"Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene\u2014Case study of three women from one family","volume":"64","author":"Nabrdalik","year":"2013","journal-title":"Endokrynol. Pol."},{"key":"ref_110","doi-asserted-by":"crossref","unstructured":"Ara\u00fajo-Vilar, D., S\u00e1nchez-Iglesias, S., Castro, A., Cobelo-G\u00f3mez, S., Hermida-Ameijeiras, A., Rodr\u00edguez-Carnero, G., Casanueva, F., and Fern\u00e1ndez-Pombo, A. (2021). Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to R482 and N466 Variants in the LMNA Gene. J. Clin. Med., 10.","DOI":"10.3390\/jcm10061259"},{"key":"ref_111","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_112","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_113","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_114","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_115","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_116","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/j.atherosclerosis.2013.04.016","article-title":"A novel lamin A\/C mutation in a Dutch family with premature atherosclerosis","volume":"229","author":"Weterings","year":"2013","journal-title":"Atherosclerosis"},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1111\/cen.14426","article-title":"Cardiac phenotype in familial partial lipodystrophy","volume":"94","author":"Eldin","year":"2021","journal-title":"Clin. Endocrinol."},{"key":"ref_118","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_119","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1016\/j.diabet.2018.09.006","article-title":"Diamenord\u2013AEDNL Working Group. 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_120","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_121","doi-asserted-by":"crossref","first-page":"2223","DOI":"10.1210\/jc.2007-2521","article-title":"Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy","volume":"93","author":"Vantyghem","year":"2008","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1530\/EJE-08-0272","article-title":"Monogenic polycystic ovary syndrome due to a mutation in the lamin A\/C gene is sensitive to thiazolidinediones but not to metformin","volume":"159","author":"Gambineri","year":"2008","journal-title":"Eur. J. Endocrinol."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.4158\/EP.14.9.1126","article-title":"Prevalence of reproductive abnormalities among women with familial partial lipodystrophy","volume":"14","author":"Joy","year":"2008","journal-title":"Endocr. Pract."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"S31","DOI":"10.1038\/sj.ijo.0802911","article-title":"Lessons from human mutations in PPARgamma","volume":"29","author":"Hegele","year":"2005","journal-title":"Int. J. Obes."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1111\/cen.13732","article-title":"Renal complications of lipodystrophy: A closer look at the natural history of kidney disease","volume":"89","author":"Akinci","year":"2018","journal-title":"Clin. Endocrinol."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1159\/000354716","article-title":"Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA","volume":"124","author":"Thong","year":"2013","journal-title":"Nephron. Clin. Pract."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"1530","DOI":"10.1002\/ajmg.a.32331","article-title":"Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C","volume":"146A","author":"Rankin","year":"2008","journal-title":"Am. J. Med. Genet. A."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1089\/thy.2009.0267","article-title":"Regional decrease of subcutaneous adipose tissue in patients with type 2 familial partial lipodystrophy is associated with changes in thyroid hormone metabolism","volume":"20","author":"Calvo","year":"2010","journal-title":"Thyroid"},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1177\/0003489420933645","article-title":"Hypopharyngeal Squamous Cell Carcinoma in Sisters with LMNA Associated Familial Partial Lipodystrophy: A Case Report and Review of the Literature","volume":"129","author":"Youssef","year":"2020","journal-title":"Ann. Otol. Rhinol. Laryngol."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"5120","DOI":"10.1210\/jc.2018-02730","article-title":"Comorbidities and Survival in Patients With Lipodystrophy: An International Chart Review Study","volume":"104","author":"Akinci","year":"2019","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"e2953","DOI":"10.1210\/clinem\/dgab216","article-title":"Effect of Leptin Therapy on Survival in Generalized and Partial Lipodystrophy: A Matched Cohort Analysis","volume":"106","author":"Cook","year":"2021","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1080\/07315724.2016.1262299","article-title":"Evaluation of Dietary Intake, Leisure-Time Physical Activity, and Metabolic Profile in Women with Mutation in the LMNA Gene","volume":"36","author":"Monteiro","year":"2017","journal-title":"J. Am. Coll. Nutr."},{"key":"ref_133","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. Metab."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1055\/s-0031-1301284","article-title":"Thiazolidinedione response in familial lipodystrophy patients with LMNA mutations: A case series","volume":"44","author":"Luedtke","year":"2012","journal-title":"Horm. Metab. Res."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/s13098-017-0226-0","article-title":"Dipeptidyl peptidase-4 levels are increased and partially related to body fat distribution in patients with familial partial lipodystrophy type 2","volume":"9","author":"Valerio","year":"2017","journal-title":"Diabetol. Metab. Syndr."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1016\/j.jacl.2022.08.008","article-title":"Assessment of efficacy and safety of volanesorsen for treatment of metabolic complications in patients with familial partial lipodystrophy: Results of the BROADEN study: Volanesorsen in FPLD; The BROADEN Study","volume":"16","author":"Oral","year":"2022","journal-title":"J. Clin. Lipidol."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1186\/s12944-021-01589-4","article-title":"Selective targeting of angiopoietin-like 3 (ANGPTL3) with vupanorsen for the treatment of patients with familial partial lipodystrophy (FPLD): Results of a proof-of-concept study","volume":"20","author":"Akinci","year":"2021","journal-title":"Lipids Health Dis."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1016\/j.metabol.2006.11.010","article-title":"Long-term efficacy of leptin replacement in patients with Dunnigan-type familial partial lipodystrophy","volume":"56","author":"Park","year":"2007","journal-title":"Metabolism"},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"1565","DOI":"10.1111\/dom.14726","article-title":"Therapeutic indications and metabolic effects of metreleptin in patients with lipodystrophy syndromes: Real-life experience from a national reference network","volume":"24","author":"Mosbah","year":"2022","journal-title":"Diabetes Obes. Metab."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1210\/jc.2011-2229","article-title":"Comparison of efficacy and safety of leptin replacement therapy in moderately and severely hypoleptinemic patients with familial partial lipodystrophy of the Dunnigan variety","volume":"97","author":"Simha","year":"2012","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1007\/s12020-019-01862-8","article-title":"Long-term effectiveness and safety of metreleptin in the treatment of patients with partial lipodystrophy","volume":"64","author":"Oral","year":"2019","journal-title":"Endocrine"},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1111\/dom.12606","article-title":"One-year metreleptin improves insulin secretion in patients with diabetes linked to genetic lipodystrophic syndromes","volume":"18","author":"Vatier","year":"2016","journal-title":"Diabetes Obes. Metab."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1002\/hep.20672","article-title":"Leptin reverses nonalcoholic steatohepatitis in patients with severe lipodystrophy","volume":"41","author":"Javor","year":"2005","journal-title":"Hepatology"},{"key":"ref_144","doi-asserted-by":"crossref","unstructured":"Miehle, K., Stumvoll, M., Fasshauer, M., and Hierl, T. Facial soft tissue volume decreases during metreleptin treatment in patients with partial and generalized lipodystrophy. Endocrine, 2017. 58, 262\u2013266.","DOI":"10.1007\/s12020-017-1437-8"},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"e1739","DOI":"10.1210\/clinem\/dgab760","article-title":"Endogenous Leptin Concentrations Poorly Predict Metreleptin Response in Patients With Partial Lipodystrophy","volume":"107","author":"Meral","year":"2022","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"3068","DOI":"10.1210\/jc.2018-02787","article-title":"Efficacy of Metreleptin Treatment in Familial Partial Lipodystrophy Due to PPARG vs LMNA Pathogenic Variants","volume":"104","author":"Sekizkardes","year":"2019","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_147","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_148","doi-asserted-by":"crossref","first-page":"2096","DOI":"10.1093\/hmg\/ddu728","article-title":"The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy","volume":"24","author":"Vadrot","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"111136","DOI":"10.1016\/j.celrep.2022.111136","article-title":"HOTAIR interacts with PRC2 complex regulating the regional preadipocyte transcriptome and human fat distribution","volume":"40","author":"Kuo","year":"2022","journal-title":"Cell Rep."},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1186\/s13023-020-01364-1","article-title":"LipoDDx: A mobile application for identification of rare lipodystrophy syndromes","volume":"15","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"2176","DOI":"10.1038\/s41598-023-27987-5","article-title":"Identifying congenital generalized lipodystrophy using deep learning-DEEPLIPO","volume":"13","author":"Barbosa","year":"2023","journal-title":"Sci. Rep."},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/s13023-020-1295-y","article-title":"European lipodystrophy registry: Background and structure","volume":"15","author":"Adams","year":"2020","journal-title":"Orphanet J. 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