Article
The molecular genetic basis of myophosphorylase deficiency (McArdle's disease).
Muscle & nerve. Supplement - 1 Jan 1995
Tsujino S, Shanske S, Nonaka I, DiMauro S
Abstract excerpt
Glycogen phosphorylase catalyzes the first step of glycogen catabolism. Hereditary defects of muscle phosphorylase lead to a myopathy characterized by exercise intolerance, cramps, and myoglobinuria (McArdle's disease). We have identified ten mutations in the myophosphorylase gene in patients with McArdle's disease. Relatively common mutations include: a nonsense mutation, CGA(Arg) to TGA at codon 49, observed in...
Topics
- Base Sequence
- Child
- Child, Preschool
- Glycogen Storage Disease Type V
- Humans
- Italy
- Japan
- Male
- Molecular Sequence Data
- Mutation
- Phosphorylases
- RNA, Messenger