Abstract
Neutral lipid storage disease with myopathy (NLSD-M) is a multisystem disorder of endogenous triglycerides (TG) catabolism caused by mutations in the PNPLA2 gene, encoding a lipase which catalyzes the first step in the hydrolysis of triacylglycerol. Therefore this disorder is characterized by massive accumulation of TG cytoplasmic droplets in several tissues including leukocytes (Jordan’s anomaly), muscle, heart and liver, and clinically by myopathy with elevated CK levels, and by variable cardiac and liver involvement.
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