Glycogen storage disease type II (GSDII) is a recessively inherited disorder due to the deficiency of acid alpha-glucosidase (GAA) that results in impaired glycogen degradation and its accumulation in the lysosomes. We report here the complete molecular analysis of the GAA gene performed on 40 Itali
β¦ LIBER β¦
Two new missense mutations of GAA in late onset glycogen storage disease type II
β Scribed by Young-Eun Park; Kyu-Hyun Park; Chang-Hoon Lee; Cheol-Min Kim; Dae-Seong Kim
- Book ID
- 119302107
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 276 KB
- Volume
- 251
- Category
- Article
- ISSN
- 0022-510X
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## Communicated by Elizabeth Neufeld Patients with glycogen storage disease type II (GSDII, Pompe disease) suffer from progressive muscle weakness due to acid a-glucosidase deficiency. The disease is inherited as an autosomal recessive trait with a spectrum of clinical phenotypes. We have investiga