Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation.

Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation.

BACKGROUND: Mutations 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 m...

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Main Authors: Gisela Nogales-Gadea, Emma Mormeneo, Inés García-Consuegra, Juan C Rubio, Anna Orozco, Joaquin Arenas, Miguel A Martín, Alejandro Lucia, Anna M Gómez-Foix, Ramon Martí, Antoni L Andreu
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2010-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC2950139?pdf=render

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http://europepmc.org/articles/PMC2950139?pdf=render

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