Congenital Generalized Lipodystrophy, Type 4 (CGL4) Associated with Myopathy due to Novel PTRF Mutations

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near total absence of body fat since birth with predisposition to insulin resistance, diabetes, hypertriglyceridemia and hepatic steatosis. Three CGL loci, AGPAT2, BSCL2 and CAV1 have been identified p...

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Main Authors: Shastry, Savitha, Delgado, Mauricio R., Dirik, Eray, Turkmen, Mehmet, Agarwal, Anil K., Garg, Abhimanyu
Format: Artigo
Sprog:Inglês
Udgivet: 2010
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2930069/
https://ncbi.nlm.nih.gov/pubmed/20684003
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33578
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