KEGG   DISEASE: H00770Help
Entry
H00770                      Disease                                

Name
Congenital myasthenic syndrome
Description
Congenital myasthenic syndromes (CMSs) are a heterogenous group of genetic disorders caused by mutations in several proteins that compose the neuromuscular junction (NMJ) apparatus on which synaptic formation and function depend. The majority are recessively inherited. The disorders of the NMJ cause weakness and fatigue.
Category
Nervous system disease
BRITE hierarchy
Pathway
Neuroactive ligand-receptor interaction
Glycerophospholipid metabolism
Cholinergic synapse
ECM-receptor interaction
Gene
CHRNE [HSA:1145] [KO:K04817]
CHRNA1 [HSA:1134] [KO:K04803]
CHRNB1 [HSA:1140] [KO:K04812]
CHRND [HSA:1144] [KO:K04816]
COLQ [HSA:8292]
CHAT [HSA:1103] [KO:K00623]
RAPSN [HSA:5913]
SCN4A [HSA:6329] [KO:K04837]
MUSK [HSA:4593] [KO:K05129]
DOK7 [HSA:285489]
AGRN [HSA:375790] [KO:K06254]
Drug
Fluoxetine [DR:D00326]
Quinidine sulfate [DR:D02272]
Ephedrine [DR:D00124 D01386 D04018]
Salbutamol [DR:D02147 D00683]
Other DBs
Reference
PMID:19593127 (description)
  Authors
Argov Z
  Title
Management of myasthenic conditions: nonimmune issues.
  Journal
Curr Opin Neurol 22:493-7 (2009)
Reference
PMID:20547629 (description, gene, drug)
  Authors
Spillane J, Beeson DJ, Kullmann DM
  Title
Myasthenia and related disorders of the neuromuscular junction.
  Journal
J Neurol Neurosurg Psychiatry 81:850-7 (2010)

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