ArticleJournal of inherited metabolic disease2017
Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.
Article in Journal of inherited metabolic disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 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
- A Continuum of Atrial Peristalsis Initiates the Bicuspid to Quadricuspid Valve Transition.bioRxiv : the preprint server for biology · 2026Article
- Glycogenin-1 deficiency: a case report and review of the literature.Frontiers in genetics · 2026Article
- Cardiovascular involvement in glycogen storage diseases.Nature reviews. Cardiology · 2026Review
- Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.Journal of molecular medicine (Berlin, Germany) · 2025Article
- Presumed Pathogenic Germ Line and Somatic Variants in African American Thyroid Cancer.Thyroid : official journal of the American Thyroid Association · 2024Article
- Gene therapy for glycogen storage diseases.Journal of inherited metabolic disease · 2024Review
- Glycogen storage diseases.Nature reviews. Disease primers · 2023Review
- 251st ENMC international workshop: Polyglucosan storage myopathies 13-15 December 2019, Hoofddorp, the Netherlands.Neuromuscular disorders : NMD · 2021Article
- Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy.Molecular genetics and metabolism reports · 2020Article
- 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
- Glycogen metabolism and glycogen storage disorders.Annals of translational medicine · 2018Review
- Clinical heterogeneity and phenotype/genotype findings in 5 families withNeurology. Genetics · 2017Article
- Human-Induced Pluripotent Stem Cell-Based Modeling of Cardiac Storage Disorders.Current cardiology reports · 2017Review
Corrections and comments
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Authors and funding
12 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We describe a new type of cardiomyopathy caused by a mutation in the glycogenin-1 gene (GYG1). Three unrelated male patients aged 34 to 52 years with cardiomyopathy and abnormal glycogen storage on endomyocardial biopsy were homozygous for the missense mutation p.Asp102His in GYG1. The mutated glycogenin-1 protein was expressed in cardiac tissue but had lost its ability to autoglucosylate as demonstrated by an in vitro assay and western blot analysis. It was therefore unable to form the primer for normal glycogen synthesis. Two of the patients showed similar patterns of heart dilatation, reduced ejection fraction and extensive late gadolinium enhancement on cardiac magnetic resonance imaging. These two patients were severely affected, necessitating cardiac transplantation. The cardiomyocyte storage material was characterized by large inclusions of periodic acid and Schiff positive material that was partly resistant to alpha-amylase treatment consistent with polyglucosan. The storage material had, unlike normal glycogen, a partly fibrillar structure by electron microscopy. None of the patients showed signs or symptoms of muscle weakness but a skeletal muscle biopsy in one case revealed muscle fibres with abnormal glycogen storage. Glycogenin-1 deficiency is known as a rare cause of skeletal muscle glycogen storage disease, usually without cardiomyopathy. We demonstrate that it may also be the cause of severe cardiomyopathy and cardiac failure without skeletal muscle weakness. GYG1 should be included in cardiomyopathy gene panels.
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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.