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References

These sources were used to develop the Genetics Home Reference condition summary on neutral lipid storage disease with myopathy.

Bruno C, Dimauro S. Lipid storage myopathies. Curr Opin Neurol. 2008 Oct;21(5):601-6. doi: 10.1097/WCO.0b013e32830dd5a6. Review. PubMed citation
Fischer J, Lefèvre C, Morava E, Mussini JM, Laforêt P, Negre-Salvayre A, Lathrop M, Salvayre R. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet. 2007 Jan;39(1):28-30. Epub 2006 Dec 24. PubMed citation
Kobayashi K, Inoguchi T, Maeda Y, Nakashima N, Kuwano A, Eto E, Ueno N, Sasaki S, Sawada F, Fujii M, Matoba Y, Sumiyoshi S, Kawate H, Takayanagi R. The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets. J Clin Endocrinol Metab. 2008 Jul;93(7):2877-84. doi: 10.1210/jc.2007-2247. Epub 2008 Apr 29. PubMed citation
Smirnova E, Goldberg EB, Makarova KS, Lin L, Brown WJ, Jackson CL. ATGL has a key role in lipid droplet/adiposome degradation in mammalian cells. EMBO Rep. 2006 Jan;7(1):106-13. PubMed citation

Reviewed: November 2008

Published: May 13, 2013