Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies

McArdle disease is an autosomal recessive disorder of muscle glycogen metabolism caused by pathogenic mutations in the PYGM gene, which encodes the skeletal muscle-specific isoform of glycogen phosphorylase. Clinical symptoms are mainly characterized by transient acute “crises” of early fatigue, mya...

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Detalles Bibliográficos
Autores principales: Villarreal-Salazar, Mónica, Brull, Astrid, Nogales-Gadea, Gisela, Andreu, Antoni L., Martín, Miguel A., Arenas, Joaquín, Santalla, Alfredo, Lucia, Alejandro, Vissing, John, Krag, Thomas O., Pinós, Tomàs
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774685/
https://www.ncbi.nlm.nih.gov/pubmed/35052414
http://dx.doi.org/10.3390/genes13010074

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