KEGG   VARIANT: 2218v1
Entry
2218v1                      Variant                                
Name
FKTN deficiency
Gene
FKTN  fukutin [KO:K19872]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607440
Network
nt06013  O-Glycan biosynthesis
Disease
H02307  Muscular dystrophy-dystroglycanopathy
Reference
PMID:14627679
  Authors
de Bernabe DB, van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, Dobyns WB, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner HG
  Title
A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
  Journal
J Med Genet 40:845-8 (2003)
DOI:10.1136/jmg.40.11.845
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