ReviewSports medicine (Auckland, N.Z.)2014
McArdle disease: a unique study model in sports medicine.
Review in Sports medicine (Auckland, N.Z.), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
26 citing papers in PubMed, 52 citations in OpenAlex.
- Dose-response effect of pre-exercise carbohydrates under muscle glycogen unavailability: Insights from McArdle disease.Journal of sport and health science · 2024Trial
- Lactate and hydrogen ions play a predominant role in evoking the exercise pressor reflex during ischaemic contractions but not during freely perfused contractions.The Journal of physiology · 2025Article
- Pregnancy in Patients With McArdle's Disease.Cureus · 2025Review
- Aerobic capacity and muscle proteome: Insights from a mouse model.Experimental physiology · 2025Article
- Exertion induced rhabdomyolysis in both triceps muscles in a 36-year old woman: A case report.Radiology case reports · 2024Article
- Chimeric Cell Therapies as a Novel Approach for Duchenne Muscular Dystrophy (DMD) and Muscle Regeneration.Biomolecules · 2024Review
- Creation of an iPSC-Based Skeletal Muscle Model of McArdle Disease Harbouring the Mutation c.2392T>C (p.Trp798Arg) in theBiomedicines · 2023Article
- Exercise and Experiments of Nature.Comprehensive Physiology · 2023Article
- Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle disease.The Journal of physiology · 2023Article
- Article
- Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology.International journal of molecular sciences · 2022Article
- Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis.International journal of molecular sciences · 2022Article
- Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies.Genes · 2021Review
- The Second Wind in McArdle Patients: Fitness Matters.Frontiers in physiology · 2021Article
- Exercise, Nutrition, and Supplements in the Muscle Carnitine Palmitoyl-Transferase II Deficiency: New Theoretical Bases for Potential Applications.Frontiers in physiology · 2021Review
- Sex Differences and the Influence of an Active Lifestyle on Adiposity in Patients with McArdle Disease.International journal of environmental research and public health · 2020Article
- McArdle Disease vs. Stiff-Person Syndrome: A Case Report Highlighting the Similarities Between Two Rare and Distinct Disorders.Frontiers in neurology · 2020Article
- McArdle Disease: New Insights into Its Underlying Molecular Mechanisms.International journal of molecular sciences · 2019Review
- Non-osteogenic muscle hypertrophy in children with McArdle disease.Journal of inherited metabolic disease · 2018Article
- Muscle molecular adaptations to endurance exercise training are conditioned by glycogen availability: a proteomics-based analysis in the McArdle mouse model.The Journal of physiology · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
McArdle disease is arguably the paradigm of exercise intolerance in humans. This disorder is caused by inherited deficiency of myophosphorylase, the enzyme isoform that initiates glycogen breakdown in skeletal muscles. Because patients are unable to obtain energy from their muscle glycogen stores, this disease provides an interesting model of study for exercise physiologists, allowing insight to be gained into the understanding of glycogen-dependent muscle functions. Of special interest in the field of muscle physiology and sports medicine are also some specific (if not unique) characteristics of this disorder, such as the so-called 'second wind' phenomenon, the frequent exercise-induced rhabdomyolysis and myoglobinuria episodes suffered by patients (with muscle damage also occurring under basal conditions), or the early appearance of fatigue and contractures, among others. In this article we review the main pathophysiological features of this disorder leading to exercise intolerance as well as the currently available therapeutic possibilities. Patients have been traditionally advised by clinicians to refrain from exercise, yet sports medicine and careful exercise prescription are their best allies at present because no effective enzyme replacement therapy is expected to be available in the near future. As of today, although unable to restore myophosphorylase deficiency, the 'simple' use of exercise as therapy seems probably more promising and practical for patients than more 'complex' medical approaches.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.