KEGG   VARIANT: 79147v1
Entry
79147v1                      Variant                               
Name
FKRP deficiency
Gene
FKRP  fukutin related protein [KO:K19873]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606596
Network
nt06013  O-Glycan biosynthesis
Disease
H02307  Muscular dystrophy-dystroglycanopathy
Reference
  Authors
Beltran-Valero de Bernabe D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F
  Title
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
  Journal
J Med Genet 41:e61 (2004)
DOI:10.1136/jmg.2003.013870
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