Brull, AstridLuna, Noemí deBlanco-Grau, ALucía Mulas, AlejandroMartín Casanueva, Miguel ÁngelArenas, JoaquínMartí, RamónAndreu, Antoni L.Pinós, Tomás2015-06-162017-01-012015Brull, A., Luna, N., Blanco‐Grau, A., Lucía, A., Martín, M. A., Arenas, J., ... & Pinós, T. (2015). Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model. The Journal of physiology, [Epub ahead of print] .0022375114697793http://hdl.handle.net/11268/4007McArdle disease, caused by inherited deficiency of the enzyme muscle glycogen phosphorylase (GP-MM), is arguably the paradigm of exercise intolerance. The recent knock-in (p.R50X/p.R50X) mouse disease model allows an investigation of the phenotypic consequences of muscle glycogen unavailability and the physiopathology of exercise intolerance. We analysed, in 2-month-old mice [wild-type (wt/wt), heterozygous (p.R50X/wt) and p.R50X/p.R50X)], maximal endurance exercise capacity and the molecular consequences of an absence of GP-MM in the main glycogen metabolism regulatory enzymes: glycogen synthase, glycogen branching enzyme and glycogen debranching enzyme, as well as glycogen content in slow-twitch (soleus), intermediate (gastrocnemius) and glycolytic/fast-twitch (extensor digitorum longus; EDL) muscles.engKnock-in mouseGlycogen phosphorylaseMuscle phenotypejournal article10.1113/JP270085open accessEnfermedades - McArdleEjercicio físicoGenéticaCienciaSalud