Article
Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency.
Muscle & nerve. Supplement - 1 Jan 1995
Tsujino S, Shanske S, Sakoda S, Toscano A, DiMauro S
Abstract excerpt
Phosphoglycerate mutase (PGAM; EC 2.7.5.3) catalyzes the interconversion of 2-phosphoglycerate and 3-phosphoglycerate in the glycolytic pathway. Hereditary muscle PGAM deficiency has been identified in 9 patients with myopathy. All patients had exercise intolerance and 6 had myoglobinuria. Seven of the 9 patients were African-Americans: 5 of them were homozygous for a nonsense mutation, TGG(Trp) to TAG at codon...
Topics
- Adolescent
- Adult
- Base Sequence
- Black People
- Child
- Female
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Muscles
- Mutation