Fischer Fischer J J Lefèvre Lefèvre C C Morava Morava E E Mussini Mussini J-M J-M Laforêt Laforêt P P Negre-Salvayre Negre-Salvayre A A The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy Nat Genet Nat Genet 2007 2007 39 39 28 28 30 30 10.1038/ng1951 10.1038/ng1951 17187067 17187067. The gene discussed is PNPLA2; the disease is myopathy.