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)
| Descriptor ID |
D020294
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| MeSH Number(s) |
C10.668.758.800 C16.320.590
|
| Concept/Terms |
Myasthenic Syndromes, Congenital- Myasthenic Syndromes, Congenital
- Myasthenic Syndrome, Congenital
- Syndrome, Congenital Myasthenic
- Syndromes, Congenital Myasthenic
- Congenital Myasthenia Gravis
- Gravi, Congenital Myasthenia
- Congenital Myasthenic Syndromes
- Myasthenia Gravis, Congenital
- Congenital Myasthenia
- Congenital Myasthenic Syndrome
Myasthenic Syndromes, Congenital, Slow Channel- Myasthenic Syndromes, Congenital, Slow Channel
- Myasthenic Syndrome, Congenital, Slow-Channel
- Slow-Channel Congenital Myasthenic Syndromes
- Slow Channel Congenital Myasthenic Syndromes
- Congenital Slow-Channel Myasthenic Syndromes
- Congenital Slow Channel Myasthenic Syndromes
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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 this website by year, and whether "Myasthenic Syndromes, Congenital" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2001 | 1 | 0 | 1 |
| 2002 | 2 | 0 | 2 |
| 2003 | 3 | 0 | 3 |
| 2004 | 1 | 0 | 1 |
| 2006 | 3 | 0 | 3 |
| 2007 | 2 | 0 | 2 |
| 2008 | 1 | 0 | 1 |
| 2009 | 1 | 0 | 1 |
| 2010 | 2 | 0 | 2 |
| 2011 | 2 | 0 | 2 |
| 2012 | 1 | 0 | 1 |
| 2013 | 2 | 0 | 2 |
| 2014 | 1 | 0 | 1 |
| 2017 | 1 | 0 | 1 |
| 2018 | 2 | 0 | 2 |
| 2021 | 1 | 0 | 1 |
| 2024 | 0 | 1 | 1 |
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Below are the most recent publications written about "Myasthenic Syndromes, Congenital" by people in Profiles.
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The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt. HGG Adv. 2024 Jul 18; 5(3):100288.
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Dominant and recessive congenital myasthenic syndromes caused by SYT2 mutations. Muscle Nerve. 2021 08; 64(2):219-224.
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Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A. Mol Genet Genomic Med. 2018 05; 6(3):434-440.
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A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5. Ann N Y Acad Sci. 2018 02; 1413(1):119-125.
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Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. Am J Med Genet A. 2017 Aug; 173(8):2240-2245.
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Fluoxetine is neuroprotective in slow-channel congenital myasthenic syndrome. Exp Neurol. 2015 Aug; 270:88-94.
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Selective inhibition of caspases in skeletal muscle reverses the apoptotic synaptic degeneration in slow-channel myasthenic syndrome. Hum Mol Genet. 2014 Jan 01; 23(1):69-77.
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Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia. Clin Genet. 2014 Feb; 85(2):166-71.
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Synaptic basal lamina-associated congenital myasthenic syndromes. Ann N Y Acad Sci. 2012 Dec; 1275:36-48.
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LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin. Hum Genet. 2012 Jul; 131(7):1123-35.