Multi-disciplinary research
Publication:

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene (2011)

Author(s): 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, Lochmuller H

      • Date: 01-11-2011
      • Journal: Journal of Neurology
      • Volume: 258
      • Issue: 11
      • Pages: 1987-1997
      • Publisher: Springer Medizin
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: Neutral lipid storage myopathy (NLSDM) PNPLA2 Treatment ADIPOSE TRIGLYCERIDE LIPASE CHANARIN-DORFMAN-SYNDROME HORMONE-SENSITIVE LIPASE PATATIN DOMAIN DISEASE TISSUE DEFICIENCY METABOLISM DISORDERS LIPOLYSIS

      Staff

      Dr Grainne Gorman
      Biomedical Research Centre Fellow

      Professor Doug Turnbull
      Professor of Neurology