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Article

Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation.

Molecular genetics and metabolism - 1 Jan 2000

Gort Laura, Coll M Josep, Chabás Amparo

Abstract excerpt

Glycogen storage disease type II is an autosomal recessive disorder of glycogen metabolism due to deficiency of lysosomal acid alpha-glucosidase. We present the molecular and enzymatic analyses of 22 Spanish GSD II patients. Molecular analyses revealed nine novel mutations. The most common defects were mutations c.-32-13T>G (25%) and c.1076-1G>C (14%) and we report the first homozygous patient for c.1076-1G>C...

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PMID: 17616415
DOI: 10.1016/j.ymgme.2007.05.011

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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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