Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model

McArdle 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...

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Publicat a:J Physiol
Autors principals: Brull, Astrid, de Luna, Noemí, Blanco-Grau, Albert, Lucia, Alejandro, Martin, Miguel Angel, Arenas, Joaquin, Martí, Ramon, Andreu, Antoni L, Pinós, Tomàs
Format: Artigo
Idioma:Inglês
Publicat: John Wiley & Sons, Ltd 2015
Matèries:
Muscle
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4500353/
https://ncbi.nlm.nih.gov/pubmed/25873271
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/JP270085
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