Article
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
Human mutation - 1 Jan 2004
Hermans Monique M P, van Leenen Dik, Kroos Marian A, Beesley Clare E, Van Der Ploeg Ans T, Sakuraba Hitoshi, Wevers Ron, Kleijer Wim, Michelakakis Helen, Kirk Edwin P, Fletcher Janice, Bosshard Nils, Basel-Vanagaite Lina, Besley Guy, Reuser Arnold J J
Abstract excerpt
Patients with glycogen storage disease type II (GSDII, Pompe disease) suffer from progressive muscle weakness due to acid alpha-glucosidase deficiency. The disease is inherited as an autosomal recessive trait with a spectrum of clinical phenotypes. We have investigated 29 cases of GSDII and thereby identified 55 pathogenic mutations of the acid alpha-glucosidase gene (GAA) encoding acid maltase. There were 34...
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