Article
Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2010
Goldstein Jennifer L, Austin Stephanie L, Boyette Keri, Kanaly Angela, Veerapandiyan Aravind, Rehder Catherine, Kishnani Priya S, Bali Deeksha S
Abstract excerpt
PURPOSE: Glycogen Storage Disease Type III (limit dextrinosis; Cori or Forbes disease) is an autosomal recessive disorder of glycogen metabolism caused by deficient activity of glycogen debranching enzyme in liver and muscle (Glycogen Storage Disease Type IIIa) or liver only (Glycogen Storage Disease Type IIIb). These two clinically distinct phenotypes are caused by mutations in the same gene...
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