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Congenital Myasthenic Syndrome
| Name: | Congenital Myasthenic Syndrome |
| 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). |
| Synonym(s): | Congenital Myasthenia Gravis |
| Super-category: | Neuromuscular Junction Diseases |
| Defining citation: | Arch Neurol 1999 Feb;56(2):163-7 |
| Id: | birnlex_12597 |
| Link to OWL / RDF: | Download this content as OWL/RDF |
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This category has the following 2 subcategories, out of 2 total.
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| Created | 5 October 2007 + |
| CurationStatus | uncurated + |
| DefiningCitation | Arch Neurol 1999 Feb;56(2):163-7 + |
| Definition | A heterogeneous group of disorders charact … 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). stsynaptic surface of the junction (MeSH). |
| DefinitionSource | MeSH + |
| Id | birnlex_12597 + |
| Label | Congenital Myasthenic Syndrome + |
| ModifiedDate | 29 May 2009 + |
| Synonym | Congenital Myasthenia Gravis + |