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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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| Preferred Name | Congenital Myasthenic Syndrome | |
| Synonyms |
Congenital Myasthenia Gravis |
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| Definitions |
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 (MeSH). |
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| ID |
http://uri.neuinfo.org/nif/nifstd/birnlex_12597 |
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| alternative label |
Congenital Myasthenia Gravis
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| createdDate |
2007-10-05
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| definingCitation |
Arch Neurol 1999 Feb;56(2):163-7
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| definition |
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 (MeSH).
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| editorial note | ||
| externalSourceId |
D020294
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| hasBirnlexCurator | ||
| hasCurationStatus | ||
| hasDefinitionSource | ||
| hasExternalSource | ||
| label |
Congenital Myasthenic Syndrome
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| MeshUid |
D020294
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| modifiedDate |
2007-10-05
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|
| note |
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 (MeSH).
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| preferred label |
Congenital Myasthenic Syndrome
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| Resource Identifier |
D020294
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| synonym |
Congenital Myasthenia Gravis
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| usageNote |
Do not confuse with MYASTHENIA GRAVIS, NEONATAL, a transient condition seen in neonates born to myasthenic mothers (MeSH).
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| subClassOf |
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