Article
A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.
CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne - 3 Feb 2015
Rousseau-Nepton Isabelle, Okubo Minoru, Grabs Rosemarie, Mitchell John, Polychronakos Constantin, Rodd Celia
Abstract excerpt
BACKGROUND: Glycogen storage disease type III is caused by mutations in both alleles of the AGL gene, which leads to reduced activity of glycogen-debranching enzyme. The clinical picture encompasses hypoglycemia, with glycogen accumulation leading to hepatomegaly and muscle involvement (skeletal and cardiac). We sought to identify the genetic cause of this disease within the Inuit community of Nunavik, in whom...
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