KEGG   VARIANT: 84197v1
Entry
84197v1                      Variant                               
Name
POMK deficiency
Gene
POMK  protein O-mannose kinase [KO:K17547]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 615247
Network
nt06013  O-Glycan biosynthesis
Disease
H00120  Muscular dystrophy-dystroglycanopathy type A
H01959  Muscular dystrophy-dystroglycanopathy type C
Reference
PMID:24925318
  Authors
Di Costanzo S, Balasubramanian A, Pond HL, Rozkalne A, Pantaleoni C, Saredi S, Gupta VA, Sunu CM, Yu TW, Kang PB, Salih MA, Mora M, Gussoni E, Walsh CA, Manzini MC
  Title
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.
  Journal
Hum Mol Genet 23:5781-92 (2014)
DOI:10.1093/hmg/ddu296
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