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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
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  • Definition Source: MeSH

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Facts about Congenital Myasthenic SyndromeRDF feed
Created5 October 2007  +
CurationStatusuncurated  +
DefiningCitationArch Neurol 1999 Feb;56(2):163-7  +
DefinitionA 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).
DefinitionSourceMeSH  +
Idbirnlex_12597  +
LabelCongenital Myasthenic Syndrome  +
ModifiedDate29 May 2009  +
SynonymCongenital Myasthenia Gravis  +
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