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

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 <i>PYGM</i> gene, which encodes the skeletal muscle-specific isoform of glycogen phosphorylase. Clinical symptoms are mainly characterized by transient acute “crises” of...

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Bibliographic Details
Main Authors: Mónica Villarreal-Salazar, Astrid Brull, Gisela Nogales-Gadea, Antoni L. Andreu, Miguel A. Martín, Joaquín Arenas, Alfredo Santalla, Alejandro Lucia, John Vissing, Thomas O. Krag, Tomàs Pinós
Format: Article
Language:English
Published: MDPI AG 2021-12-01
Series:Genes
Subjects:
McArdle disease
glycogen
glycogen phosphorylase
research models
treatments
Online Access:https://www.mdpi.com/2073-4425/13/1/74

Internet

https://www.mdpi.com/2073-4425/13/1/74

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