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

Title
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
Authors
Keywords
Neutral lipid storage disease with myopathy, Cardiomyopathy, PNPLA2, Triglyceride lipase, Lipid metabolism, Lipid droplets
Journal
NEUROMUSCULAR DISORDERS
Volume 27, Issue 5, Pages 481-486
Publisher
Elsevier BV
Online
2017-01-18
DOI
10.1016/j.nmd.2017.01.011

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