Nogales Gadea, GiselaMormeneo, EmmaConsuegra García, InésRubio, Juan C.Orozco, AnnaArenas, JoaquínMartín, Miguel A.Lucia, AlejandroGómez Foix, Anna MariaMartí Seves, RamonAndreu, Antoni2013-05-092013-05-092010-101932-6203https://hdl.handle.net/2445/43264Mutations in the PYGM gene encoding skeletal muscle glycogen phosphorylase (GP) cause a metabolic disorder known as McArdle's disease. Previous studies in muscle biopsies and cultured muscle cells from McArdle patients have shown that PYGM mutations abolish GP activity in skeletal muscle, but that the enzyme activity reappears when muscle cells are in culture. The identification of the GP isoenzyme that accounts for this activity remains controversial.11 p.application/pdfengcc-by (c) Nogales Gadea, Gisela et al., 2010http://creativecommons.org/licenses/by/3.0/esTrastorns del metabolismeGenètica molecularFisiologia patològicaGlicogenDisorders of metabolismMolecular geneticsPathological physiologyGlycogeninfo:eu-repo/semantics/article5985812013-05-09info:eu-repo/semantics/openAccess20957198