Article
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.
Journal of neurology - 1 Nov 2011
Reilich Peter, Horvath Rita, Krause Sabine, Schramm Nicolai, Turnbull Doug M, Trenell Michael, Hollingsworth Kieren G, Gorman Grainne S, Hans Volkmar H, Reimann Jens, MacMillan Andrée, Turner Lesley, Schollen Annette, Witte Gregor, Czermin Birgit, Holinski-Feder Elke, Walter Maggie C, Schoser Benedikt, Lochmüller Hanns
Abstract excerpt
Neutral lipid storage disease is caused by mutations in the CGI-58 or the PNPLA2 genes. Lipid storage can be detected in various cell types including blood granulocytes. While CGI-58 mutations are associated with Chanarin-Dorfman syndrome, a condition characterized by lipid storage and skin involvement (ichthyosis), mutations in the patatin-like phospholipase domain-containing protein 2 gene (PNPLA2) were...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.