Article
McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases.
Human molecular genetics - 1 Aug 1993
Bartram C, Edwards R H, Clague J, Beynon R J
Abstract excerpt
McArdle's disease is an inherited disease that results from a lack of functional muscle glycogen phosphorylase. We report here the identification of a C to T transition in exon 1 of the muscle phosphorylase gene found in all patients studied. This base pair mutation results in the substitution of...
Topics
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 11
- Codon
- DNA Primers
- Exons
- Genetic Carrier Screening
- Glycogen Storage Disease Type V
- Humans
- Molecular Sequence Data
- Muscles
- Phenotype
- Phosphorylases
- Point Mutation
- Polymerase Chain Reaction
- RNA, Messenger
- Restriction Mapping