 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
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| 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
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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 UAMS Profiles by year, and whether "Myasthenic Syndromes, Congenital" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2021 | 2 | 0 | 2 | | 2019 | 1 | 0 | 1 | | 2018 | 1 | 0 | 1 | | 2016 | 0 | 1 | 1 | | 2015 | 1 | 0 | 1 | | 2013 | 0 | 1 | 1 |
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Below are the most recent publications written about "Myasthenic Syndromes, Congenital" by people in Profiles over the past ten years.
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Dhasakeerthi T, Aravindhan A, Woodall A, Mills W, Veerapandiyan A. Congenital Myasthenic Syndrome due to a Novel Mutation in CHAT Gene. J Clin Neuromuscul Dis. 2021 Sep 01; 23(1):54-55.
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Maselli RA, Wei DT, Hodgson TS, Sampson JB, Vazquez J, Smith HL, Pytel P, Ferns M. Dominant and recessive congenital myasthenic syndromes caused by SYT2 mutations. Muscle Nerve. 2021 08; 64(2):219-224.
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Gonzalez Garcia A, Tutmaher MS, Upadhyayula SR, Sanchez Russo R, Verma S. Novel PLEC gene variants causing congenital myasthenic syndrome. Muscle Nerve. 2019 12; 60(6):E40-E43.
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Kumar A, Asghar S, Kavanagh R, Wicklund MP. Unique presentation of rapidly fluctuating symptoms in a child with congenital myasthenic syndrome due to RAPSN mutation. Muscle Nerve. 2018 10; 58(4):E23-E24.
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Shibata A, Okuno T, Rahman MA, Azuma Y, Takeda J, Masuda A, Selcen D, Engel AG, Ohno K. IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome. J Hum Genet. 2016 Jul; 61(7):633-40.
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Rahman MA, Azuma Y, Nasrin F, Takeda J, Nazim M, Bin Ahsan K, Masuda A, Engel AG, Ohno K. SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome. Sci Rep. 2015 Aug 18; 5:13208.
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