Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genes and exercise intolerance: insights from McArdle disease.

Physiological genomics - 1 Feb 2016

Nogales-Gadea Gisela, Godfrey Richard, Santalla Alfredo, Coll-Cantí Jaume, Pintos-Morell Guillem, Pinós Tomàs, Arenas Joaquín, Martín Miguel Angel, Lucia Alejandro

Abstract excerpt

McArdle disease (glycogen storage disease type V) is caused by inherited deficiency of a key enzyme in muscle metabolism, the skeletal muscle-specific isoform of glycogen phosphorylase, "myophosphorylase," which is encoded by the PYGM gene. Here we review the main pathophysiological, genotypic, and phenotypic features of McArdle disease and their interactions. To date, moderate-intensity exercise (together with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biopsy
Share to Exercise

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Exercise Tolerance

Share to Glycogen

Share to Glycogen Storage Disease Type V

Share to Muscles

Share to Registries

Source

Identifiers

PMID: 26465709
DOI: 10.1152/physiolgenomics.00076.2015

Genes

PYGM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genes and exercise intolerance: insights from McArdle disease.PMID 26465709Read ↗

McArdle Disease: New Insights into Its Underlying Molecular MechanismsSemantic proximity Read ↗

Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.Semantic proximity Read ↗

A novel compound heterozygous mutation in PYGM gene associated with McArdle's disease.Semantic proximity Read ↗

Whole-exome sequencing detects PYGM variants in two adults with McArdle disease.Semantic proximity Read ↗

McArdle disease: molecular genetic update.Semantic proximity Read ↗

McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.Semantic proximity Read ↗

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)Semantic proximity Read ↗

McArdle's disease: molecular genetics and metabolic consequences of the phenotype.Semantic proximity Read ↗

Novel mutation in the PYGM gene resulting in McArdle disease.Semantic proximity Read ↗

The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.Semantic proximity Read ↗

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.Semantic proximity Read ↗

Clinical and molecular characterization of McArdle's disease in Brazilian patients.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.