Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications

Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications

Abstract Background Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by the near-total loss of subcutaneous adipose tissue soon after birth, resulting in ectopic fat deposition and severe metabolic disturbances. Most cases are caused by AGPAT2 or BSCL2...

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Bibliographic Details
Main Authors: Renan Magalhães Montenegro Junior, Grayce Ellen da Cruz Paiva Lima, Virgínia Oliveira Fernandes, Ana Paula Dias Rangel Montenegro, Clarisse Mourão Melo Ponte, Lívia Vasconcelos Martins, Daniel Pascoalino Pinheiro, Maria Elisabete Amaral de Moraes, Manoel Odorico de Moraes Filho, Catarina Brasil d’Alva
Format: Article
Language:English
Published: BMC 2020-04-01
Series:Diabetology & Metabolic Syndrome
Subjects:
Congenital generalized lipodystrophy
AGPAT2
Cardiovascular disease
Online Access:http://link.springer.com/article/10.1186/s13098-020-00538-y

Internet

http://link.springer.com/article/10.1186/s13098-020-00538-y

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