Free Access
Issue
Med Sci (Paris)
Volume 32, Novembre 2016
Les cahiers de myologie
Page(s) 10 - 11
Section Cas cliniques
DOI https://doi.org/10.1051/medsci/201632s203
Published online 21 November 2016
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  3. 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]
  4. 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]
  5. 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]
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