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 who were heterozygous for a common mutation reported elsewhere (CGA [Arg] to TGA [stop]) at codon 49. The...
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