Citations for
1NLSDM, PNPLA2
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.
Fiorillo C, Brisca G, Cassandrini D, Scapolan S, Astrea G, Valle M, Scuderi F, Trucco F, Natali A, Magnano G, Gazzerro E, Minetti C, Arca M, Santorelli FM, Bruno C.
Biochem Biophys Res Commun 430(1):241-4. doi: 10.1016/j.bbrc.2012.10.127. Epub 2012 Nov 9. 2013
2NLSDM, PNPLA2
Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy.
Lin P, Li W, Wen B, Zhao Y, Fenster DS, Wang Y, Gong Y, Yan C.
J Hum Genet 57(10):679-81. doi: 10.1038/jhg.2012.84. Epub 2012 Jul 26. 2012
3NLSDM, PNPLA2
Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function.
Tavian D, Missaglia S, Redaelli C, Pennisi EM, Invernici G, Wessalowski R, Maiwald R, Arca M, Coleman RA.
Hum Mol Genet 21(24):5318-28. doi: 10.1093/hmg/dds388. Epub 2012 Sep 17. 2012
4NLSDM, PNPLA2
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.
Reilich P, Horvath R, Krause S, Schramm N, Turnbull DM, Trenell M, Hollingsworth KG, Gorman GS, Hans VH, Reimann J, MacMillan A, Turner L, Schollen A, Witte G, Czermin B, Holinski-Feder E, Walter MC, Schoser B, Lochmüller H.
J Neurol 258(11):1987-97. Epub 2011 May 5. 2011
5NLSDM, PNPLA2
A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles.
Chen J, Hong D, Wang Z, Yuan Y.
Clin Neuropathol 29(6):351-6. 2010
6NLSDM, PNPLA2
Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy.
Campagna F, Nanni L, Quagliarini F, Pennisi E, Michailidis C, Pierelli F, Bruno C, Casali C, DiMauro S, Arca M.
Biochem Biophys Res Commun 377(3):843-6. Epub 2008 Oct 24. 2008
7PNPLA2, NLSDM
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.
Fischer J, Lefevre C, Morava E, Mussini JM, Laforet P, Negre-Salvayre A, Lathrop M, Salvayre R.
Nat Genet 39(1):28-30. Epub 2006 Dec 24. 2007