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Article

Molecular genetics of late onset glycogen storage disease II in Italy.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Jul 2007

Pittis M G, Filocamo M

Abstract excerpt

Glycogen Storage Disease Type II (GSDII) is a recessively inherited disorder due to the deficiency of acid alpha-glucosidase (GAA) that results in glycogen accumulation in the lysosomes. The molecular analysis of the GAA gene was performed on 45 Italian patients with late onset GSDII. DHPLC analysis revealed 28 polymorphisms spread all over the GAA gene. Direct sequencing identified the 96% of the mutant alleles,...

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Identifiers

PMID: 17915575
PMCID: PMC2949324

Genes

GAA

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Source receipt: pubmed, retrieved 7 Sept 2026.

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