KEGG   VARIANT: 5213v1
Entry
5213v1                      Variant                                
Name
PFKM deficiency
Gene
PFKM  phosphofructokinase, muscle [KO:K00850]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 610681
Network
nt06017  Glycogen metabolism
Disease
H01945  Glycogen storage disease type VII
Reference
PMID:8889589
  Authors
Hamaguchi T, Nakajima H, Noguchi T, Nakagawa C, Kuwajima M, Kono N, Tarui S, Matsuzawa Y
  Title
Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII.
  Journal
Hum Mutat 8:273-5 (1996)
DOI:10.1002/(SICI)1098-1004(1996)8:3<273::AID-HUMU13>3.0.CO;2-#
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