Body fat distribution in women with familial partial lipodystrophy caused by mutation in the lamin A/C gene

Familial partial lipodystrophy (FPLD), Dunnigan variety, is an autosomal dominant disorder caused due to missense mutations in the lamin A/C (LMNA) gene encoding nuclear lamina proteins. Patients with FPLD are predisposed to metabolic complications of insulin resistance such as diabetes. We sought t...

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Autores principales: Monteiro, Luciana Z., Foss-Freitas, Maria C., Júnior Montenegro, Renan M., Foss, Milton C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3263183/
https://www.ncbi.nlm.nih.gov/pubmed/22276265
http://dx.doi.org/10.4103/2230-8210.91209
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author Monteiro, Luciana Z.
Foss-Freitas, Maria C.
Júnior Montenegro, Renan M.
Foss, Milton C.
author_facet Monteiro, Luciana Z.
Foss-Freitas, Maria C.
Júnior Montenegro, Renan M.
Foss, Milton C.
author_sort Monteiro, Luciana Z.
collection PubMed
description Familial partial lipodystrophy (FPLD), Dunnigan variety, is an autosomal dominant disorder caused due to missense mutations in the lamin A/C (LMNA) gene encoding nuclear lamina proteins. Patients with FPLD are predisposed to metabolic complications of insulin resistance such as diabetes. We sought to evaluate and compare body fat distribution with dual-emission X-ray absorptiometry in women with and without FPLD and identify densitometric, clinical and metabolic features.
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spelling pubmed-32631832012-01-24 Body fat distribution in women with familial partial lipodystrophy caused by mutation in the lamin A/C gene Monteiro, Luciana Z. Foss-Freitas, Maria C. Júnior Montenegro, Renan M. Foss, Milton C. Indian J Endocrinol Metab Case Report Familial partial lipodystrophy (FPLD), Dunnigan variety, is an autosomal dominant disorder caused due to missense mutations in the lamin A/C (LMNA) gene encoding nuclear lamina proteins. Patients with FPLD are predisposed to metabolic complications of insulin resistance such as diabetes. We sought to evaluate and compare body fat distribution with dual-emission X-ray absorptiometry in women with and without FPLD and identify densitometric, clinical and metabolic features. Medknow Publications & Media Pvt Ltd 2012 /pmc/articles/PMC3263183/ /pubmed/22276265 http://dx.doi.org/10.4103/2230-8210.91209 Text en Copyright: © Indian Journal of Endocrinology and Metabolism http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Monteiro, Luciana Z.
Foss-Freitas, Maria C.
Júnior Montenegro, Renan M.
Foss, Milton C.
Body fat distribution in women with familial partial lipodystrophy caused by mutation in the lamin A/C gene
title Body fat distribution in women with familial partial lipodystrophy caused by mutation in the lamin A/C gene
title_full Body fat distribution in women with familial partial lipodystrophy caused by mutation in the lamin A/C gene
title_fullStr Body fat distribution in women with familial partial lipodystrophy caused by mutation in the lamin A/C gene
title_full_unstemmed Body fat distribution in women with familial partial lipodystrophy caused by mutation in the lamin A/C gene
title_short Body fat distribution in women with familial partial lipodystrophy caused by mutation in the lamin A/C gene
title_sort body fat distribution in women with familial partial lipodystrophy caused by mutation in the lamin a/c gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3263183/
https://www.ncbi.nlm.nih.gov/pubmed/22276265
http://dx.doi.org/10.4103/2230-8210.91209
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