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

ABSTRACT: 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, myalgia and contractures, which can be accompanied by rhabdomyolysis. Owing to the difficulty of performing mechanistic studies in patients that often rely on invasive techniques, preclinical models have been used for decades, thereby contributing to gain insight into the pathophysiology and pathobiology of human diseases. In the present work, we describe the existing in vitro and in vivo preclinical models for McArdle disease and review the insights these models have provided. In addition, despite

SUBMITTER: Villarreal-Salazar M 

PROVIDER: S-EPMC8774685 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature