- Fischer J, Lefevre C, Morava E, et al. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet 2007 ; 39 : 28–30. [CrossRef] [PubMed]
- Reilich P, Horvath R, Krause S, et al. The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. J Neurol. 2011 ; 258 : 1987–1997. [CrossRef] [PubMed]
- Perrin L, Féasson L, Furby A, et al. PNPLA2 mutation: a paediatric case with early onset but indolent course. Neuromuscul Disord 2013 ; 23 : 986–991. [CrossRef] [PubMed]
- Kaneko K, Kuroda H, Izumi R, et al. A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review. Neuromuscul Disord 2014 ; 24 : 634–641. [CrossRef] [PubMed]
- Laforêt P, Stojkovic T, Bassez G, et al. Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study. Mol Genet Metab 2013 ; 108 : 125–131. [CrossRef] [PubMed]
- Foster LA, Courville EL, Manousakis G. Clinical reasoning: a 33-year-old man with cardiomyopathy and myopathy. Neurology 2016 ; 87 : e74–e78. [CrossRef] [PubMed]
- Van de Weijer T, Havekes B, Biler L, et al. Effects of bezafibrate treatment in a patient and a carrier with mutations in the PNPLA2 gene, causing neutral lipid storage disease with myopathy. Circ Res 2013 ; 112 : e51–e54. [CrossRef] [PubMed]
Med Sci (Paris)
Volume 32, Novembre 2016Les cahiers de myologie
|Page(s)||10 - 11|
|Published online||21 November 2016|
Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.
Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.
Initial download of the metrics may take a while.