GSD4 - Glycogen Storage Disease Type IV/Norwegian Forest Cat

Early muscular atrophy

Description: 
Abnormality of glucose metabolism resulting in an accumulation of an abnormal form of glycogen in the body
Symptomes: 
Death at or soon after birth. Rarely, affected kittens could live normally until 5 months old, but the disease leads quickly to neuromuscular degeneration, to severe muscular atrophies, to cardiac failures and to death before 15 months old
Age d'aparition: 
Before 15 months old
Fréquence: 
4%
Gène impliqué: 
GBE1
Mutation testée: 
g. IVS11+1552_IVS12-1339 del6.2 kb ins334 bp
Transmission: 
Autosomal Recessive
Brevet: 
_
Remarques: 
_