McArdle disease: The mystery of reappearing phosphorylase activity in muscle culture—A fetal isoenzyme

Expression of the muscle glycogen phosph

Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay

✍ Gisela Nogales-Gadea; Juan Carlos Rubio; Israel Fernandez-Cadenas; Ines Garcia-C 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 194 KB

Nearly 35% of all mutations identified in the muscle glycogen phosphorylase gene (PYGM) in patients with McArdle disease result in premature termination codons (PTCs), particularly the p.R50X mutation. The latter accounts for more than 50% of the mutated alleles in most Caucasian patient populations