KEGG   VARIANT: 1272v1
Entry
1272v1                      Variant                                
Name
CNTN1 mutation
Type
Loss of function
Gene
CNTN1  contactin 1 [KO:K06759]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600016
Network
nt06546  IgSF CAM signaling
Disease
H01810  Congenital myopathy
Reference
PMID:19026398
  Authors
Compton AG, Albrecht DE, Seto JT, Cooper ST, Ilkovski B, Jones KJ, Challis D, Mowat D, Ranscht B, Bahlo M, Froehner SC, North KN
  Title
Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.
  Journal
Am J Hum Genet 83:714-24 (2008)
DOI:10.1016/j.ajhg.2008.10.022
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