ReviewActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2007
McArdle disease: molecular genetic update.
Review in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 47 citations in OpenAlex.
- Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V).The Cochrane database of systematic reviews · 2014Pooled it
- Physical training for McArdle disease.The Cochrane database of systematic reviews · 2011Pooled it
- Article
- Acute kidney injury after swimming: a pediatric case of McArdle disease.Pediatric nephrology (Berlin, Germany) · 2025Article
- Article
- Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort.Biochemical genetics · 2025Article
- Mitochondrial Redox Status Regulates Glycogen Metabolism via Glycogen Phosphorylase Activity.Antioxidants (Basel, Switzerland) · 2024Article
- Review
- Mutations in Glycosyltransferases and Glycosidases: Implications for Associated Diseases.Biomolecules · 2024Article
- The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers.European journal of neurology · 2021Article
- A High Creatine Kinase Concentration Might Be a Sign of McArdle Disease in Patient With Type 1 Diabetes.Biochemistry insights · 2019Article
- Rhabdomyolysis: a genetic perspective.Orphanet journal of rare diseases · 2015Review
- Six-Digit CPK and Mildly Affected Renal Function in McArdle Disease.Case reports in pediatrics · 2014Article
- Clinical and molecular characterization of McArdle's disease in Brazilian patients.Neuromolecular medicine · 2013Article
- Mechanistic insights into the regulation of metabolic enzymes by acetylation.The Journal of cell biology · 2012Review
- Acetylation negatively regulates glycogen phosphorylase by recruiting protein phosphatase 1.Cell metabolism · 2012Article
- McArdle disease: a case report and review.International medical case reports journal · 2012Article
- Inborn errors of energy metabolism associated with myopathies.Journal of biomedicine & biotechnology · 2010Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
McArdle disease or Glycogenosis type V is an autosomal recessive metabolic disorder caused by a deficiency of the muscle isoform of glycogen phosphorylase (myophosphorylase, PYGM), the specific skeletal muscle enzyme that initiates glycogen breakdown. Since the first clinical description by Brian McArdle in 1951, several patients have been identified worldwide and significant advances have been made in the study of molecular genetics of the disease. Molecular heterogeneity has been demonstrated by the identification to date of more than 65 mutations in the PYGM gene.
Indexed as
Identifiers
17915571PMC2949323W1545780754What 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.