ReviewJournal of molecular neuroscience : MN2010
What have we learned from the congenital myasthenic syndromes.
Review in Journal of molecular neuroscience : MN, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 88 citations in OpenAlex.
- Pharmacological Treatments for Congenital Myasthenic Syndromes Caused byCurrent neuropharmacology · 2023Pooled it
- Trial
- Neuromuscular junction failure in sarcopenia is linked to NaV1.4 loss and reversed by ClC-1 inhibition.The Journal of clinical investigation · 2026Article
- Congenital myasthenic syndromes a rare case of AGRN mutation.American journal of neurodegenerative disease · 2025Article
- Assessing the Utility of ColabFold and AlphaMissense in Determining Missense Variant Pathogenicity for Congenital Myasthenic Syndromes.Biomedicines · 2024Article
- BAG3: Nature's Quintessential Multi-Functional Protein Functions as a Ubiquitous Intra-Cellular Glue.Cells · 2023Review
- Variants ofBMJ case reports · 2021Article
- Impairment Mechanisms and Intervention Approaches for Aged Human Neuromuscular Junctions.Frontiers in molecular neuroscience · 2020Review
- A 3D culture model of innervated human skeletal muscle enables studies of the adult neuromuscular junction.eLife · 2019Article
- Clinical and genetic characterization of an Italian family with slow-channel syndrome.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2019Article
- Fatigue in Rapsyn-Deficient Zebrafish Reflects Defective Transmitter Release.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2016Article
- Pathogenesis of myasthenia gravis: update on disease types, models, and mechanisms.F1000Research · 2016Review
- Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome.Annals of neurology · 2015Article
- An ocular motility conundrum.BMJ case reports · 2014Article
- The impact of human hyperekplexia mutations on glycine receptor structure and function.Molecular brain · 2014Review
- Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.Neuromuscular disorders : NMD · 2014Article
- Transgenic mouse model reveals an unsuspected role of the acetylcholine receptor in statin-induced neuromuscular adverse drug reactions.The pharmacogenomics journal · 2013Article
- Skeletal muscle calpain acts through nitric oxide and neural miRNAs to regulate acetylcholine release in motor nerve terminals.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2013Article
- Myasthenogenicity of the main immunogenic region.Annals of the New York Academy of Sciences · 2012Article
- Mechanosensitivity of nicotinic receptors.Pflugers Archiv : European journal of physiology · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
The congenital myasthenic syndromes have now been traced to an array of molecular targets at the neuromuscular junction encoded by no fewer than 11 disease genes. The disease genes were identified by the candidate gene approach, using clues derived from clinical, electrophysiological, cytochemical, and ultrastructural features. For example, electrophysiologic studies in patients suffering from sudden episodes of apnea pointed to a defect in acetylcholine resynthesis and CHAT as the candidate gene (Ohno et al., Proc Natl Acad Sci USA 98:2017-2022, 2001); refractoriness to anticholinesterase medications and partial or complete absence of acetylcholinesterase (AChE) from the endplates (EPs) has pointed to one of the two genes (COLQ and ACHE ( T )) encoding AChE, though mutations were observed only in COLQ. After a series of patients carrying mutations in a disease gene have been identified, the emerging genotype-phenotype correlations provided clues for targeted mutation analysis in other patients. Mutations in EP-specific proteins also prompted expression studies that proved pathogenicity, highlighted important functional domains of the abnormal proteins, and pointed to rational therapy.
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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.