Bone marrow transplantation in phosphoglycerate kinase (PGK) deficiency
β Scribed by Melissa Rhodes; Linda Ashford; Becky Manes; Cassie Calder; Jennifer Domm; Haydar Frangoul
- Book ID
- 108677057
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 63 KB
- Volume
- 152
- Category
- Article
- ISSN
- 0007-1048
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract The Xβlinked recessive disease phosphoglycerate kinase (PGK) deficiency is caused by altered expression of the PGK1 enzyme, which causes muscle stiffness, hemolytic anemia, and mental retardation. In this study we characterized the __PGK1__ gene in a family of two brothers, two sisters,
## Abstract A 25βyearβold man with exertional myoglobinuria had no evidence of hemolytic anemia, but he had severe parkinsonism that was responsive to levodopa. Phosphoglycerate kinase (PGK) activity was markedly decreased in muscle, and molecular analysis of the __PGK1__ gene identified the p.T378