ReviewActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2011
Progress and problems in muscle glycogenoses.
Review in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 39 citations in OpenAlex.
- The return of metabolism: biochemistry and physiology of glycolysis.Biological reviews of the Cambridge Philosophical Society · 2026Review
- Glycogen storage disease type VII (Tarui disease): a case report presenting aFrontiers in genetics · 2026Article
- Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs).Biomolecules · 2024Review
- A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review.Internal medicine (Tokyo, Japan) · 2022Review
- Differential Expression of Myogenic and Calcium Signaling-Related Genes in Broilers Affected With White Striping.Frontiers in physiology · 2021Article
- Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort.Molecular genetics and metabolism reports · 2020Article
- Article
- Novel heterozygous mutations in theMolecular genetics and metabolism reports · 2018Article
- Glycogen metabolism and glycogen storage disorders.Annals of translational medicine · 2018Review
- Novel method for detection of glycogen in cells.Glycobiology · 2017Article
- Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.Journal of inherited metabolic disease · 2017Article
- Striated muscle function, regeneration, and repair.Cellular and molecular life sciences : CMLS · 2016Review
- Metabolic Myoglobinuria.Current neurology and neuroscience reports · 2015Review
- Investigation and management of the hepatic glycogen storage diseases.Translational pediatrics · 2015Review
- PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry.Neurology. Genetics · 2015Article
- Regulators of autophagosome formation in Drosophila muscles.PLoS genetics · 2015Article
- A new muscle glycogen storage disease associated with glycogenin-1 deficiency.Annals of neurology · 2014Article
- Pompe disease: literature review and case series.Neurologic clinics · 2014Review
- Metabolic myopathies.Continuum (Minneapolis, Minn.) · 2013Review
- Adeno-associated virus-mediated gene therapy for metabolic myopathy.Human gene therapy · 2013Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In this selective review, we consider a number of unsolved questions regarding the glycogen storage diseases (GSD). Thus, the pathogenesis of Pompe disease (GSD II) is not simply explained by excessive intralysosomal glycogen storage and may relate to a more general dysfunction of autophagy. It is not clear why debrancher deficiency (GSD III) causes fixed myopathy rather than exercise intolerance, unless this is due to the frequent accompanying neuropathy. The infantile neuromuscular presentation of branching enzyme deficiency (GSD IV) is underdiagnosed and is finally getting the attention it deserves. On the other hand, the late-onset variant of GSD IV (adult polyglucosan body disease APBD) is one of several polyglucosan disorders (including Lafora disease) due to different etiologies. We still do not understand the clinical heterogeneity of McArdle disease (GSD V) or the molecular basis of the rare fatal infantile form. Similarly, the multisystemic infantile presentation of phosphofructokinase deficiency (GSD VII) is a conundrum. We observed an interesting association between phosphoglycerate kinase deficiency (GSD IX) and juvenile Parkinsonism, which is probably causal rather than casual. Also unexplained is the frequent and apparently specific association of phosphoglycerate mutase deficiency (GSD X) and tubular aggregates. By paying more attention to problems than to progress, we aimed to look to the future rather than to the past.
Indexed as
Identifiers
22106711PMC3235878W10627615What 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.