Glycogen storage disease type III (GSD-III), also known as Cori disease or Forbes disease, is an autosomal recessive disorder of glycogen metabolism caused by deficient activity of glycogen debranching enzyme AGL. Most GSD-III patients have AGL deficiency in both the liver and muscle (type IIIa), but some have it in the liver but not muscle (type IIIb).
Goldstein JL, Austin SL, Boyette K, Kanaly A, Veerapandiyan A, Rehder C, Kishnani PS, Bali DS
タイトル
Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.
