Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease.

Abstract excerpt

We report two new mutations in the myophosphorylase gene (PYGM) in two unrelated Italian patients with myophosphorylase deficiency (McArdle's disease). In one, we identified a missense C-to-T mutation at codon 269 in exon 7, changing CGA (arginine) to TGA (stop codon) (R269X). The second patient carried a G-to-C mutation, changing GCT (alanine) to CCT (proline) at codon 686 (A686P) in exon 17. Both were compound...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Codon, Nonsense
• Share to CGA gene
• Share to Glycogen Storage Disease Type V