KEGG   VARIANT: 5837v1
Entry
5837v1                      Variant                                
Name
PYGM deficiency
Gene
PYGM  glycogen phosphorylase, muscle associated [KO:K00688]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608455
Network
nt06017  Glycogen metabolism
Disease
H01943  Glycogen storage disease type V
Reference
PMID:16924035
  Authors
Andersen ST, Duno M, Schwartz M, Vissing J
  Title
Do carriers of PYGM mutations have symptoms of McArdle disease?
  Journal
Neurology 67:716-8 (2006)
DOI:10.1212/01.wnl.0000230154.79933.d7
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