Files

598581.pdf (3.26 MB)

Document type

Article

Version

Published version

Publication date

2010-10

Publication license

cc-by (c) Nogales Gadea, Gisela et al., 2010
Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/43264

Expression of Glycogen Phosphorylase Isoforms in Cultured Muscle from Patients with McArdle´s Disease Carrying the p.R771PfsX33 PYGM Mutation

Journal Title

Authors

Director/Tutor

Journal ISSN

Volume Title

Related resource

http://dx.doi.org/10.1371/journal.pone.0013164

Abstract

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 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.

Subject

Trastorns del metabolisme, Genètica molecular, Fisiologia patològica, Glicogen

Subject (English)

Disorders of metabolism, Molecular genetics, Pathological physiology, Glycogen

Citation

Collections

Articles publicats en revistes (Bioquímica i Biomedicina Molecular)

Citation

NOGALES GADEA, Gisela, et al. Expression of Glycogen Phosphorylase Isoforms in Cultured Muscle from Patients with McArdle´s Disease Carrying the p.R771PfsX33 PYGM Mutation. PLoS One. 2010. Vol. 5, num. 10, pags. e13164. ISSN 1932-6203. [consulted: 7 of June of 2026]. Available at: https://hdl.handle.net/2445/43264

Export metadata

JSON - METS

Share record