Gene involved GBE1
Mutation tested g.IVS11+1552_IVS12-1339 del6.2kbins334bp (GSD4)
Transmission mode : Autosomal recessive Age of onset : Before 15 months old
Publication : Fyfe et al. (2007). A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats.