Article
Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay.
Human mutation - 1 Feb 2008
Nogales-Gadea Gisela, Rubio Juan Carlos, Fernandez-Cadenas Israel, Garcia-Consuegra Ines, Lucia Alejandro, Cabello Ana, Garcia-Arumi Elena, Arenas Joaquin, Andreu Antoni L, Martín Miguel A
Abstract excerpt
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 populati...
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