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Article

Evidence for a founder effect in Sicilian patients with glycogen storage disease type II.

Human heredity - 1 Jan 2000

Dagnino F, Stroppiano M, Regis S, Bonuccelli G, Filocamo M

Abstract excerpt

Glycogen storage disease type II (GSD II) is an autosomal recessive inherited disorder due to the deficiency of the enzyme acid alpha-glucosidase, which causes an accumulation of glycogen in lysosomes. The deletion of exon 18 (delta 18) is a frequent mutation associated with a severe phenotype. We analyzed 25 Italian patients, 5 of whom were found to be delta 18 carriers. All these 5 patients came from Catania, a...

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PMID: 10899751
DOI: 10.1159/000022938

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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