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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...

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Identifiers

PMID: 25602008
DOI: 10.1503/cmaj.140840
PMCID: PMC4312169

Genes

AGL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25602008-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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