Article
Mutations in muscle phosphofructokinase gene.
Human mutation - 1 Jan 1995
Raben N, Sherman J B
Abstract excerpt
Mutations in the muscle phosphofructokinase gene (PFK-M) result in a metabolic myopathy characterized by exercise intolerance and compensated hemolysis. PFK deficiency, glycogenosis type VII (Tarui disease) is a rare, autosomal, recessively inherited disorder. Multiple mutations, including splici...
Topics
- Chromosome Mapping
- Glycogen Storage Disease Type VII
- Humans
- Muscles
- Mutation
- Phosphofructokinase-1
- Polymorphism, Genetic