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Article

A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.

Clinical genetics - 1 Dec 2012

Mili A, Ben Charfeddine I, Amara A, Mamaï O, Adala L, Ben Lazreg T, Bouguila J, Saad A, Limem K, Gribaa M

Abstract excerpt

Glycogen storage disease type III (GSD III) is an autosomal recessive disorder characterized by excessive accumulation of abnormal glycogen in the liver and muscles and caused by deficiency in the glycogen debranching enzyme, the amylo-1,6-glucosidase (AGL). In this study, we report the clinical, biochemical and genotyping features of five unrelated GSD III patients coming from the same region in Tunisia. The...

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Identifiers

PMID: 22035446
DOI: 10.1111/j.1399-0004.2011.01806.x

Genes

AGL

Variants

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