title: Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation.
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.
authors.affiliation: Institut de Bioquímica Clínica, Hospital Clínic, C/ Mejía Lequerica s/n, Edifici Helios III, 08028 Barcelona, Spain.
authors.forename: Laura
authors.initials: L
authors.lastname: Gort
authors.forename: M Josep
authors.initials: MJ
authors.lastname: Coll
authors.forename: Amparo
authors.initials: A
authors.lastname: Chabás
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D002648:Child; D002675:Child, Preschool; D006009:Glycogen Storage Disease Type II / Q000453:epidemiology / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008247:Lysosomes / Q000201:enzymology; D008875:Middle Aged; D009154:Mutation; D013030:Spain / Q000453:epidemiology; D000520:alpha-Glucosidases / Q000235:genetics* / Q000378:metabolism
chemical_list: D000520:alpha-Glucosidases