Article
Three new mutations in patients with myophosphorylase deficiency (McArdle disease).
American journal of human genetics - 1 Jan 1994
Tsujino S, Shanske S, Nonaka I, Eto Y, Mendell J R, Fenichel G M, DiMauro S
Abstract excerpt
We report three new mutations in patients with myophosphorylase deficiency (McArdle disease). A splice-junction mutation (G-to-A transition at the 5' end of intron 14) and a missense mutation (CTG to CCG at codon 291, changing an encoded leucine to a proline) were identified in Caucasian patients...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Base Sequence
- Child
- Codon
- DNA
- Female
- Glycogen Storage Disease Type V
- Humans
- Male
- Molecular Sequence Data
- Mutation
- RNA Splicing
- Sequence Deletion