Symptomatic lipid storage in carriers for the PNPLA2 gene


Neutral lipid storage disease comprises a heterogeneous group of inherited disorders characterized by severe accumulation of cytoplasmic triglyceride droplets in several tissues and neutrophils. A novel type of autosomal recessive lipid myopathy due to PNPLA2 mutations was recently described with associated cardiac disease, myopathy and frequent infections… (More)
DOI: 10.1038/ejhg.2012.256


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