Article
Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation.
Human mutation - 1 Jan 1998
Kubisch C, Wicklein E M, Jentsch T J
Abstract excerpt
McArdle disease is a rare autosomal recessive disorder of the muscle glycogen metabolism caused by mutations in the muscle glycogen phosphorylase gene. Until now, a total number of 11 different mutations in the coding region or splice sites of the myophosphorylase gene have been identified. In co...
Topics
- Adult
- Base Sequence
- DNA Primers
- Female
- Glycogen Storage Disease Type V
- Humans
- Male
- Mutation
- Pedigree
- Phosphorylases
- Polymerase Chain Reaction