The African origin of the common mutation in African American patients with glycogen-storage disease type II [3]
β Scribed by Becker, J. A. (author);Vlach, J. (author);Raben, N. (author);Nagaraju, K. (author);Adams, E. M. (author);Hermans, M. M. (author);Reuser, A. J.J. (author);Brooks, S. S. (author);Tifft, C. J. (author);Hirschhorn, R. (author);Huie, M. L. (author);Nicolino, M. (author);Plotz, P. H. (author)
- Book ID
- 117852351
- Publisher
- Cell Press
- Year
- 1998
- Tongue
- English
- Weight
- 144 KB
- Volume
- 62
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/301788
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The infantile form of GSD II (an inherited deficiency of the lysosomal enzyme, acid Ξ± Ξ±glucosidase, Pompe disease) is a severe and invariably fatal disease characterized by a rapidly progressive generalized hypotonia, hepatomegaly, and cardiomegaly. We have recently demonstrated that African America
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