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Article

Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.

Molecular genetics and metabolism - 1 Mar 2004

Montalvo Anna Lisa E, Cariati Roberta, Deganuto Marta, Guerci Veronica, Garcia Rodolfo, Ciana Giovanni, Bembi Bruno, Pittis Maria Gabriela

Abstract excerpt

Glycogenosis type II (GSDII) is an autosomal recessive disorder due to the deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). We identified three novel point mutations, C399A, T1064C, and C2104T, in three unrelated Italian patients with the infantile form of the disease. The C399A mutation was present in homozygosity in proband 1. The C >A transition introduces a premature stop signal in exon 2...

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Identifiers

PMID: 14972326
DOI: 10.1016/j.ymgme.2003.11.011

Genes

GAA
SDS

Variants

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Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.PMID 14972326Read ↗

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