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Details on Person congenital myasthenic syndrome

Class:Id	Disease:5633237
_displayName	congenital myasthenic syndrome
_timestamp	2014-10-31 11:08:56
created	[InstanceEdit:5633234] Jassal, Bijay, 2014-10-31
definition	A neuromuscular junction disease that is characterized by weakness and easy fatigability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).
identifier	3635
name	congenital myasthenic syndrome
referenceDatabase	[ReferenceDatabase:1247631] DOID
(disease)	[Pathway:4549349] Defective ALG2 causes CDG-1i [Homo sapiens] [FailedReaction:4549368] Defective ALG2 does not transfer a second Man to N-glycan precursor [Homo sapiens] [Pathway:5633231] Defective ALG14 causes ALG14-CMS [Homo sapiens] [FailedReaction:5633241] Defective ALG14 does not transfer GlcNAc from UDP-GlcNAc to GlcNAcDOLP [Homo sapiens] [EntityWithAccessionedSequence:5633218] ALG14 P65L [endoplasmic reticulum membrane] [Homo sapiens] [DefinedSet:5633219] ALG2 mutants [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:5633223] ALG2 72_75delinsSPR [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:5633229] ALG14 R104* [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:5633236] ALG2 V68G [endoplasmic reticulum membrane] [Homo sapiens] [DefinedSet:5633238] ALG14 mutants [endoplasmic reticulum membrane] [Homo sapiens] List all 11 refering instances
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No pathways have been reviewed or authored by congenital myasthenic syndrome (5633237)