Congenital generalized lipodystrophy
Definition:
References:
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[1]. Anil K Agarwal, et al. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nat Genet. 2002 May;31(1):21-3. [Content Brief]
[2]. B Friguls, et al. Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. Eur J Med Genet. 2009 Jan-Feb;52(1):14-6. [Content Brief]
[3]. C A Kim, et al. Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. J Clin Endocrinol Metab. 2008 Apr;93(4):1129-34. [Content Brief]
[4]. Karina Braga Gomes, et al. Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL). Clin Chim Acta. 2009 Apr;402(1-2):1-6. [Content Brief]
[5]. Vinaya Simha, et al. Inherited lipodystrophies and hypertriglyceridemia. Curr Opin Lipidol. 2009 Aug;20(4):300-8. [Content Brief]
[6]. Yukiko K Hayashi, et al. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. J Clin Invest. 2009 Sep;119(9):2623-33. [Content Brief]
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