ReviewNature reviews. Neurology2016
Skeletal muscle disorders of glycogenolysis and glycolysis.
Review in Nature reviews. Neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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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.
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Who cites it
23 citing papers in PubMed, 85 citations in OpenAlex.
- A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome.Journal of inherited metabolic disease · 2018Trial
- Adenosine Triggers an ADK-Dependent Intracellular Signaling Pathway Interacts PFKFB3-Mediated Glycolytic Metabolism to Promote Newly Formed Myofibers Development.International journal of molecular sciences · 2025Article
- Physical exercise in metabolic myopathies at risk of rhabdomyolysis: a feasible approach or an unavoidable hazard?European journal of applied physiology · 2025Review
- Discovery and Treatment of Action Potential-Independent Myotonia in Hyperkalemic Periodic Paralysis.Annals of clinical and translational neurology · 2025Article
- Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies.International journal of molecular sciences · 2025Review
- MUSTN1 Interaction With SMPX Regulates Muscle Development and Regeneration.Cell proliferation · 2025Article
- Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort.Biochemical genetics · 2025Article
- LncRNA-TBP mediates TATA-binding protein recruitment to regulate myogenesis and induce slow-twitch myofibers.Cell communication and signaling : CCS · 2023Article
- Long non-coding RNAEpigenetics · 2022Article
- Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis.International journal of molecular sciences · 2022Article
- Article
- FOSL2 Is Involved in the Regulation of Glycogen Content in Chicken Breast Muscle Tissue.Frontiers in physiology · 2021Article
- lncMGPF is a novel positive regulator of muscle growth and regeneration.Journal of cachexia, sarcopenia and muscle · 2020Article
- Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.Brain : a journal of neurology · 2020Article
- Muscle diffusion tensor imaging in glycogen storage disease V (McArdle disease).European radiology · 2019Article
- Non-traumatic and non-drug-induced rhabdomyolysis.Archives of medical sciences. Atherosclerotic diseases · 2019Article
- Scutellariae Radix and Coptidis Rhizoma Improve Glucose and Lipid Metabolism in T2DM Rats via Regulation of the Metabolic Profiling and MAPK/PI3K/Akt Signaling Pathway.International journal of molecular sciences · 2018Article
- Pathogenic and rare deleterious variants in multiple genes suggest oligogenic inheritance in recurrent exertional rhabdomyolysis.Molecular genetics and metabolism reports · 2018Article
- A high-throughput screen of real-time ATP levels in individual cells reveals mechanisms of energy failure.PLoS biology · 2018Article
- Role of duplicate genes in determining the tissue-selectivity of hereditary diseases.PLoS genetics · 2018Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Skeletal muscle disorders of glycogenolysis and glycolysis account for most of the conditions collectively termed glycogen storage diseases (GSDs). These disorders are rare (incidence 1 in 20,000-43,000 live births), and are caused by autosomal or X-linked recessive mutations that result in a specific enzyme deficiency, leading to the inability to utilize muscle glycogen as an energy substrate. McArdle disease (GSD V) is the most common of these disorders, and is caused by mutations in the gene encoding muscle glycogen phosphorylase. Symptoms of McArdle disease and most other related GSDs include exercise intolerance, muscle contracture, acute rhabdomyolysis, and risk of acute renal failure. Older patients may exhibit muscle wasting and weakness involving the paraspinal muscles and shoulder girdle. For patients with these conditions, engaging with exercise is likely to be beneficial. Diagnosis is frequently delayed owing to the rarity of the conditions and lack of access to appropriate investigations. A few randomized clinical trials have been conducted, some focusing on dietary modification, although the quality of the evidence is low and no specific recommendations can yet be made. The development of EUROMAC, an international registry for these disorders, should improve our knowledge of their natural histories and provide a platform for future clinical trials.
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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.