Article
Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.
Neuromuscular disorders : NMD - 1 May 2017
Missaglia Sara, Maggi Lorenzo, Mora Marina, Gibertini Sara, Blasevich Flavia, Agostoni Piergiuseppe, Moro Laura, Cassandrini Denise, Santorelli Filippo Maria, Gerevini Simonetta, Tavian Daniela
Abstract excerpt
Neutral lipid storage disease with myopathy (NLSDM) presents with skeletal muscle myopathy and severe dilated cardiomyopathy in nearly 40% of cases. NLSDM is caused by mutations in the PNPLA2 gene, which encodes the adipose triglyceride lipase (ATGL). Here we report clinical and genetic findings of a patient carrying two novel PNPLA2 mutations (c.696+4A>G and c.553_565delGTCCCCCTTCTCG). She presented at age 39...
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