Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred

Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred

Background: Dunnigan-type familial partial lipodystrophy (FPLD2) is a rare autosomal dominant disease caused by heterozygous mutations in the LMNA gene that results in regional loss of subcutaneous adipose tissue with onset in puberty. However, a generalized lipodystrophy phenotype has also been ass...

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Main Authors: Renan Magalhães Montenegro, Aline Dantas Costa-Riquetto, Virgínia Oliveira Fernandes, Ana Paula Dias Rangel Montenegro, Lucas Santos de Santana, Alexander Augusto de Lima Jorge, Lia Beatriz de Azevedo Souza Karbage, Lindenberg Barbosa Aguiar, Francisco Herlânio Costa Carvalho, Milena Gurgel Teles, Catarina Brasil d'Alva
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-08-01
Series:Frontiers in Endocrinology
Subjects:
Dunnigan
partial lipodystrophy
generalized lipodystrophy
LMNA
FPLD2
phenotypic heterogen
Online Access:https://www.frontiersin.org/article/10.3389/fendo.2018.00458/full

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https://www.frontiersin.org/article/10.3389/fendo.2018.00458/full

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