 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
- 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 |
|---|
| 2018 | 1 | 0 | 1 |
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Below are the most recent publications written about "Myasthenic Syndromes, Congenital" by people in Profiles.
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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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Oury J, Liu Y, T?pf A, Todorovic S, Hoedt E, Preethish-Kumar V, Neubert TA, Lin W, Lochm?ller H, Burden SJ. 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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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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