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.

MeSH information

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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
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 Congenital Myasthenic Syndromes, Presynaptic Congenital Myasthenic Syndromes, Presynaptic Presynaptic Congenital Myasthenic Syndromes Congenital Myasthenic Syndromes, Postsynaptic Congenital Myasthenic Syndromes, Postsynaptic Postsynaptic Congenital Myasthenic Syndromes

Below are MeSH descriptors whose meaning is more general than "Myasthenic Syndromes, Congenital".

Diseases [C]
Nervous System Diseases [C10]
Neuromuscular Diseases [C10.668]
Neuromuscular Junction Diseases [C10.668.758]
Myasthenic Syndromes, Congenital [C10.668.758.800]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Myasthenic Syndromes, Congenital [C16.320.590]

Below are MeSH descriptors whose meaning is related to "Myasthenic Syndromes, Congenital".

Below are MeSH descriptors whose meaning is more specific than "Myasthenic Syndromes, Congenital".

publications

Timeline | Most Recent

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.

Bar chart showing 4 publications over 4 distinct years, with a maximum of 1 publications in 2002 and 2006 and 2008 and 2010

To see the data from this visualization as text, click here.

Year	Major Topic	Total
2002	1	1
2006	1	1
2008	1	1
2010	1	1

Below are the most recent publications written about "Myasthenic Syndromes, Congenital" by people in Profiles.

Oyola-Cintr?n J, Caballero-Rivera D, Ballester L, Ba?z-Pag?n CA, Mart?nez HL, V?lez-Arroyo KP, Quesada O, Lasalde-Dominicci JA. Lateral diffusion, function, and expression of the slow channel congenital myasthenia syndrome aC418W nicotinic receptor mutation with changes in lipid raft components. J Biol Chem. 2015 Oct 30; 290(44):26790-800.

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Zhu H, Grajales-Reyes GE, Alicea-V?zquez V, Grajales-Reyes JG, Robinson K, Pytel P, B?ez-Pag?n CA, Lasalde-Dominicci JA, Gomez CM. Fluoxetine is neuroprotective in slow-channel congenital myasthenic syndrome. Exp Neurol. 2015 Aug; 270:88-94.

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Otero-Cruz JD, B?ez-Pag?n CA, Dorna-P?rez L, Grajales-Reyes GE, Ram?rez-Ordo?ez RT, Luciano CA, G?mez CM, Lasalde-Dominicci JA. Decoding pathogenesis of slow-channel congenital myasthenic syndromes using recombinant expression and mice models. P R Health Sci J. 2010 Mar; 29(1):4-17.

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B?ez-Pag?n CA, Mart?nez-Ortiz Y, Otero-Cruz JD, Salgado-Villanueva IK, Vel?zquez G, Ortiz-Acevedo A, Quesada O, Silva WI, Lasalde-Dominicci JA. Potential role of caveolin-1-positive domains in the regulation of the acetylcholine receptor's activatable pool: implications in the pathogenesis of a novel congenital myasthenic syndrome. Channels (Austin). 2008 May-Jun; 2(3):180-90.

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Navedo MF, Lasalde-Dominicci JA, B?ez-Pag?n CA, D?az-P?rez L, Rojas LV, Maselli RA, Staub J, Schott K, Zayas R, Gomez CM. Novel beta subunit mutation causes a slow-channel syndrome by enhancing activation and decreasing the rate of agonist dissociation. Mol Cell Neurosci. 2006 May-Jun; 32(1-2):82-90.

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Gomez CM, Maselli RA, Vohra BP, Navedo M, Stiles JR, Charnet P, Schott K, Rojas L, Keesey J, Verity A, Wollmann RW, Lasalde-Dominicci J. Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms. Ann Neurol. 2002 Jan; 51(1):102-12.

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Jen J, Wan J, Graves M, Yu H, Mock AF, Coulin CJ, Kim G, Yue Q, Papazian DM, Baloh RW. Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. Neurology. 2001 Nov 27; 57(10):1843-8.

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