ArticleAnnals of neurology2014
A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
Article in Annals of neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03642860 (Triheptanoin's Effect on Fatty Acid Oxidation and Exercise Tolerance in Patients With Debrancher Deficiency, Glycogenin-1 Deficiency and Phosphofructoinase Deficiency at Rest and During Exercise. A Randomized, Double-blind, Placebo-controlled, Cross-over Study), which is not on this map. Cited by 36 papers, 1 of them a synthesis that pooled it.
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.
Triheptanoin's Effect on Fatty Acid Oxidation and Exercise Tolerance in Patients With Debrancher Deficiency, Glycogenin-1 Deficiency and Phosphofructoinase Deficiency at Rest and During Exercise. A Randomized, Double-blind, Placebo-controlled, Cross-over Study
Who cites it
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 86 citations in OpenAlex.
- Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Dysregulation of glycogen metabolism in cardiomyopathy caused by glycogenin-1 (GYG1) missense variants.The Journal of clinical endocrinology and metabolism · 2026Article
- Cardiomyopathy in glycogen storage diseases: diagnosis, prognosis, and advanced management.Heart failure reviews · 2026Review
- Cardiovascular involvement in glycogen storage diseases.Nature reviews. Cardiology · 2026Review
- Glycogenin-1 deficiency: a case report and review of the literature.Frontiers in genetics · 2026Article
- Neurological glycogen storage diseases and emerging therapeutics.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs).Biomolecules · 2024Review
- New mutations identified in a case of Glycogenin-1 deficiency.Molecular genetics and metabolism reports · 2024Article
- Gene therapy for glycogen storage diseases.Journal of inherited metabolic disease · 2024Review
- Glycogen storage diseases.Nature reviews. Disease primers · 2023Review
- Mechanism of glycogen synthase inactivation and interaction with glycogenin.Nature communications · 2022Article
- Lack of p62 Impairs Glycogen Aggregation and Exacerbates Pathology in a Mouse Model of Myoclonic Epilepsy of Lafora.Molecular neurobiology · 2022Article
- Comprehensive Analysis of Molecular Subtypes and Hub Genes of Sepsis by Gene Expression Profiles.Frontiers in genetics · 2022Article
- 251st ENMC international workshop: Polyglucosan storage myopathies 13-15 December 2019, Hoofddorp, the Netherlands.Neuromuscular disorders : NMD · 2021Article
- Sequential spontaneous compartment syndrome in multiple limbs in a young adult with GYG1 gene mutation.BMJ case reports · 2020Article
- Differential diagnosis of vacuolar myopathies in the NGS era.Brain pathology (Zurich, Switzerland) · 2020Article
- Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy.Molecular genetics and metabolism reports · 2020Article
- Article
- Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage.The Journal of clinical endocrinology and metabolism · 2020Article
- Update on polyglucosan storage diseases.Virchows Archiv : an international journal of pathology · 2019Review
Corrections and comments
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Authors and funding
14 authors at 9 institutions in 6 countries.
Funding
Abstract
We describe a slowly progressive myopathy in 7 unrelated adult patients with storage of polyglucosan in muscle fibers. Genetic investigation revealed homozygous or compound heterozygous deleterious variants in the glycogenin-1 gene (GYG1). Most patients showed depletion of glycogenin-1 in skeletal muscle, whereas 1 showed presence of glycogenin-1 lacking the C-terminal that normally binds glycogen synthase. Our results indicate that either depletion of glycogenin-1 or impaired interaction with glycogen synthase underlies this new form of glycogen storage disease that differs from a previously reported patient with GYG1 mutations who showed profound glycogen depletion in skeletal muscle and accumulation of glycogenin-1.
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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.