Myasthenic Syndromes, Congenital
"Myasthenic Syndromes, Congenital" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)
MeSH Number(s)
C10.668.758.800
C16.320.590
Concept/Terms
Myasthenic Syndromes, Congenital- Myasthenic Syndromes, Congenital
- Congenital Myasthenic Syndrome
- Myasthenic Syndrome, Congenital
- Syndrome, Congenital Myasthenic
- Syndromes, Congenital Myasthenic
- Congenital Myasthenic Syndromes
- Myasthenia Gravis, Congenital
- Congenital Myasthenia Gravis
- Gravi, Congenital Myasthenia
Myasthenic Syndromes, Congenital, Slow Channel- Myasthenic Syndromes, Congenital, Slow Channel
- Slow-Channel Congenital Myasthenic Syndromes
- Slow Channel Congenital Myasthenic Syndromes
- Myasthenic Syndrome, Congenital, Slow-Channel
- Congenital Slow-Channel Myasthenic Syndromes
- Congenital Slow Channel Myasthenic Syndromes
Below are MeSH descriptors whose meaning is more general than "Myasthenic Syndromes, Congenital".
Below are MeSH descriptors whose meaning is more specific than "Myasthenic Syndromes, Congenital".
This graph shows the total number of publications written about "Myasthenic Syndromes, Congenital" by people in Harvard Catalyst Profiles by year, and whether "Myasthenic Syndromes, Congenital" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2009 | 1 | 0 | 1 |
| 2013 | 1 | 0 | 1 |
| 2014 | 1 | 0 | 1 |
| 2017 | 3 | 0 | 3 |
| 2018 | 0 | 1 | 1 |
| 2019 | 1 | 0 | 1 |
| 2020 | 4 | 0 | 4 |
| 2021 | 3 | 0 | 3 |
Below are the most recent publications written about "Myasthenic Syndromes, Congenital" by people in Profiles.
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Mechanism of disease and therapeutic rescue of Dok7 congenital myasthenia. Nature. 2021 07; 595(7867):404-408.
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Administration of Sugammadex Intraoperatively in a Patient With a Congenital Myasthenic Syndrome: A Case Report. A A Pract. 2021 Mar 24; 15(3):e01437.
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Developing outcome measures of disease activity in pediatric myasthenia. Muscle Nerve. 2021 05; 63(5):751-757.
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Congenital Myasthenic Syndrome From a Single Center: Phenotypic and Genotypic features. J Child Neurol. 2021 07; 36(8):610-617.
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Cystic kidneys in a neonate: do not forget to examine pupils. BMJ Case Rep. 2020 07 02; 13(7).
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A novel fast-channel myasthenia caused by mutation in ß subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gating. Exp Neurol. 2020 09; 331:113375.
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Congenital myasthenic syndrome-associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner. JCI Insight. 2020 04 09; 5(7).
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Molecular mechanisms determining severity in patients with Pierson syndrome. J Hum Genet. 2020 Apr; 65(4):355-362.
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MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses. J Cell Biol. 2019 05 06; 218(5):1686-1705.
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Clinical Reasoning: A child with arthrogryposis: Congenital myasthenic syndrome-CHRNA1 mutation. Neurology. 2018 09 04; 91(10):e995-e998.