Article
Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.
Human mutation - 1 Dec 2002
Lucchiari S, Donati M A, Parini R, Melis D, Gatti R, Bresolin N, Scarlato G, Comi G P
Abstract excerpt
Deficiency of amylo-1,6-glucosidase, 4-alpha-glucanotransferase enzyme (AGL or glycogen debranching enzyme) is causative of Glycogen Storage Disease type III, a rare autosomal recessive disorder of glycogen metabolism. The disease has been demonstrated to show clinical and biochemical heterogeneity, reflecting the genotype-phenotype heterogeneity among different subjects. The aim of this study was the molecular...
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