ReviewNeuromuscular disorders : NMD2012
Current status of the congenital myasthenic syndromes.
Review in Neuromuscular disorders : NMD, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 136 citations in OpenAlex.
- Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes.The Cochrane database of systematic reviews · 2014Pooled it
- TUBA4A Pathogenic Variant Manifesting With Adulthood-Onset Genetic Myasthenic Syndrome, Myopathy, and Infertility.European journal of neurology · 2026Article
- Reduction of the CaFrontiers in cellular neuroscience · 2025Review
- Revisiting the compound muscle action potential (CMAP).Clinical neurophysiology practice · 2024Review
- The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome.Biomolecules & biomedicine · 2023Review
- Article
- Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings.Frontiers in neurology · 2022Article
- Novel compound heterozygous variants in the GFPT1 gene leading to rare limb-girdle congenital myasthenic syndrome with rimmed vacuoles.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Centrosome and ciliary abnormalities in fetal akinesia deformation sequence human fibroblasts.Scientific reports · 2020Article
- A case report of congenital myasthenic syndrome caused by a mutation in theCHRNE genein the Iranian population.Iranian journal of child neurology · 2020Article
- CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.Medicine · 2018Article
- Fundamental Molecules and Mechanisms for Forming and Maintaining Neuromuscular Synapses.International journal of molecular sciences · 2018Review
- Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.Neuromuscular disorders : NMD · 2017Article
- NMJ-morph reveals principal components of synaptic morphology influencing structure-function relationships at the neuromuscular junction.Open biology · 2016Article
- AChRs Are Essential for the Targeting of Rapsyn to the Postsynaptic Membrane of NMJs in Living Mice.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2016Article
- Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.European journal of human genetics : EJHG · 2015Article
- Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.Brain : a journal of neurology · 2015Article
- Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.Human mutation · 2015Article
- SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome.Scientific reports · 2015Article
- Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome.Annals of neurology · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. Clinical, electrophysiologic, and morphologic studies have paved the way for detecting CMS-related mutations in proteins residing in the nerve terminal, the synaptic basal lamina, and in the postsynaptic region of the motor endplate. The disease proteins identified to date include choline acetyltransferase (ChAT), the endplate species of acetylcholinesterase (AChE), β2-laminin, the acetylcholine receptor (AChR), rapsyn, plectin, Na(v)1.4, the muscle specific protein kinase (MuSK), agrin, downstream of tyrosine kinase 7 (Dok-7), and glutamine-fructose-6-phosphate transaminase 1 (GFPT1). Myasthenic syndromes associated with centronuclear myopathies were recently recognized. Analysis of properties of expressed mutant proteins contributed to finding improved therapy for most CMS. Despite these advances, the molecular basis of some phenotypically characterized CMS remains elusive. Moreover, other types of CMS and disease genes likely exist and await discovery.
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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.