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  • Title: Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation.
    Author: Gort L, Coll MJ, Chabás A.
    Journal: Mol Genet Metab; 2007; 92(1-2):183-7. PubMed ID: 17616415.
    Abstract:
    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 mutation presenting with an infantile form. Alleles bearing mutation c.-32-13T>G are associated with the same haplotype.
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