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Article

A transcriptomic approach to search for novel phenotypic regulators in McArdle disease.

PloS one - 1 Jan 2012

Nogales-Gadea Gisela, Consuegra-García Inés, Rubio Juan C, Arenas Joaquin, Cuadros Marc, Camara Yolanda, Torres-Torronteras Javier, Fiuza-Luces Carmen, Lucia Alejandro, Martín Miguel A, García-Arumí Elena, Andreu Antoni L

Abstract excerpt

McArdle disease is caused by lack of glycogen phosphorylase (GP) activity in skeletal muscle. Patients experience exercise intolerance, presenting as early fatigue and contractures. In this study, we investigated the effects produced by a lack of GP on several genes and proteins of skeletal muscle in McArdle patients. Muscle tissue of 35 patients and 7 healthy controls were used to identify abnormalities in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22347505
DOI: 10.1371/journal.pone.0031718
PMCID: PMC3276513

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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