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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Detalles Bibliográficos
Autores principales: Nogales-Gadea, Gisela, Mormeneo, Emma, García-Consuegra, Inés, Rubio, Juan C., Orozco, Anna, Arenas, Joaquin, Martín, Miguel A., Lucia, Alejandro, Gómez-Foix, Anna M., Martí, Ramon, Andreu, Antoni L.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2950139/
https://www.ncbi.nlm.nih.gov/pubmed/20957198
http://dx.doi.org/10.1371/journal.pone.0013164

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