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Mol Genet Metab. 2007 Sep-Oct;92(1-2):183-7. Epub 2007 Jul 5.

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

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1
Institut de Bioquímica Clínica, Hospital Clínic, C/ Mejía Lequerica s/n, Edifici Helios III, 08028 Barcelona, Spain.

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.

PMID:
17616415
DOI:
10.1016/j.ymgme.2007.05.011
[Indexed for MEDLINE]
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