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

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 gene mut...

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Detalles Bibliográficos
Autores principales: Montenegro Junior, Renan Magalhães, Lima, Grayce Ellen da Cruz Paiva, Fernandes, Virgínia Oliveira, Montenegro, Ana Paula Dias Rangel, Ponte, Clarisse Mourão Melo, Martins, Lívia Vasconcelos, Pinheiro, Daniel Pascoalino, de Moraes, Maria Elisabete Amaral, de Moraes Filho, Manoel Odorico, d’Alva, Catarina Brasil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7137278/
https://www.ncbi.nlm.nih.gov/pubmed/32280377
http://dx.doi.org/10.1186/s13098-020-00538-y

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