Article
The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.
American journal of human genetics - 1 Mar 1993
Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S
Abstract excerpt
The glycolytic enzyme phosphoglycerate mutase (PGAM) is a dimer, and mature human skeletal muscle contains almost exclusively the MM form of the enzyme, PGAM-M. In 1981, we identified a patient with PGAM-M deficiency, and three additional patients have since been described. All presented with exe...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Base Sequence
- Bisphosphoglycerate Mutase
- Carbohydrate Metabolism, Inborn Errors
- Child
- Codon
- Exons
- Female
- Humans
- Isoenzymes
- Male
- Molecular Sequence Data
- Muscles
- Mutation
- Oligodeoxyribonucleotides
- Pedigree