ReviewJournal of neuromuscular diseases
Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions.
Review in Journal of neuromuscular diseases. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06630650 (A Single Center Prospective Natural History and Outcome Measure Validation Study of Congenital Myasthenic Syndromes), which is not on this map. Cited by 26 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
A Single Center Prospective Natural History and Outcome Measure Validation Study of Congenital Myasthenic Syndromes
Who cites it
26 citing papers in PubMed, 35 citations in OpenAlex.
- AGRN-, LRP4-, MUSK-Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological Mechanisms.Muscle & nerve · 2026Review
- Article
- The Neuromuscular Junction: A Shared Vulnerability in Aging and Disease.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Review
- Role of Nuclear Envelope Proteins in the Structure and Function of the Neuromuscular Junction: Focus on Subsynaptic Nuclei.Sub-cellular biochemistry · 2025Review
- Congenital Myasthenia Gravis Presenting as Refractory Seizures and Respiratory Failure: A Case Report.Cureus · 2025Article
- Disruption of Neuromuscular Junction Following Spinal Cord Injury and Motor Neuron Diseases.International journal of molecular sciences · 2024Review
- AInternational journal of molecular sciences · 2022Article
- New Challenges Resulting From the Loss of Function of NaFrontiers in pharmacology · 2021Review
- New recessive mutations inNeurology. Genetics · 2020Article
- Alterations of neuromuscular junctions in Duchenne muscular dystrophy.Neuroscience letters · 2020Review
- The Platform Vector Gene Therapies Project: Increasing the Efficiency of Adeno-Associated Virus Gene Therapy Clinical Trial Startup.Human gene therapy · 2020Article
- Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.American journal of medical genetics. Part A · 2020Article
- Multiple MuSK signaling pathways and the aging neuromuscular junction.Neuroscience letters · 2020Review
- Novel NtA and LG1 Mutations in Agrin in a Single Patient Causes Congenital Myasthenic Syndrome.Frontiers in neurology · 2020Article
- New Therapeutics Options for Pediatric Neuromuscular Disorders.Frontiers in pediatrics · 2020Review
- Article
- Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome.Human molecular genetics · 2019Article
- Italian recommendations for diagnosis and management of congenital myasthenic syndromes.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2019Article
- Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome.Emerging topics in life sciences · 2019Article
- Myo-Glyco disease Biology: Genetic Myopathies Caused by Abnormal Glycan Synthesis and Degradation.Journal of neuromuscular diseases · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
Congenital myasthenic syndromes (CMS) form a heterogeneous group of rare diseases characterized by fatigable muscle weakness. They are genetically-inherited and caused by defective synaptic transmission at the cholinergic neuromuscular junction (NMJ). The number of genes known to cause CMS when mutated is currently 30, and the relationship between fatigable muscle weakness and defective functions is quite well-understood for many of them. However, some of the most recent discoveries in individuals with CMS challenge our knowledge of the NMJ, where the basis of the pathology has mostly been investigated in animal models. Frontier forms between CMS and congenital myopathy, which have been genetically and clinically identified, underline the poorly understood interplay between the synaptic and extrasynaptic molecules in the neuromuscular system. In addition, precise electrophysiological and histopathological investigations of individuals with CMS suggest an important role of NMJ plasticity in the response to CMS pathogenesis. While efficient drug-based treatments are already available to improve neuromuscular transmission for most forms of CMS, others, as well as neurological and muscular comorbidities, remain resistant. Taken together, the available pathological data point to physiological issues which remain to be understood in order to achieve precision medicine with efficient therapeutics for all individuals suffering from CMS.
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Identifiers
What 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.