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Article

Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease

1 Jan 1998

Abstract excerpt

Glycogen storage disease type II (GSDII; Pompe disease), caused by inherited deficiency of acid alpha-glucosidase, is a lysosomal disorder affecting heart and skeletal muscles. A mouse model of this disease was obtained by targeted disruption of the murine acid alpha-glucosidase gene (Gaa) in embryonic stem cells. Homozygous knockout mice (Gaa -/-) lack Gaa mRNA and have a virtually complete acid...

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Identifiers

PMID: 9384603
DOI: 10.1093/hmg/7.1.53

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