KEGG   DISEASE: Congenital myasthenic syndromeHelp
H00770                      Disease                                

Congenital myasthenic syndrome
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.
Nervous system disease
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H00770  Congenital myasthenic syndrome
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G70-G73  Diseases of myoneural junction and muscle
   G70  Myasthenia gravis and other myoneural disorders
    H00770  Congenital myasthenic syndrome
BRITE hierarchy
Neuroactive ligand-receptor interaction
Glycerophospholipid metabolism
Cholinergic synapse
ECM-receptor interaction
Amino sugar and nucleotide sugar metabolism
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]
GFPT1 [HSA:2673] [KO:K00820]
Fluoxetine [DG:DG00942]
Quinidine sulfate [DG:DG00192]
Ephedrine [DG:DG00227]
Salbutamol [DR:D02147 D00683]
Other DBs
PMID:19593127 (description)
Argov Z
Management of myasthenic conditions: nonimmune issues.
Curr Opin Neurol 22:493-7 (2009)
PMID:20547629 (description, gene, drug)
Spillane J, Beeson DJ, Kullmann DM
Myasthenia and related disorders of the neuromuscular junction.
J Neurol Neurosurg Psychiatry 81:850-7 (2010)
PMID:21310273 (gene)
Senderek J, Muller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hubner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmuller H
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Am J Hum Genet 88:162-72 (2011)

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