McArdle disease - expanding the clinical phenotype

Dr Chiara Pizzamiglio of the Department of Neuromuscular Diseases at Queen Square discusses her recent publication looking at a huge cohort of 197 patients with McArdle disease. Dr Pizzamiglio hi-lights the diagnostic challenges in this GSD and shows new insights into the spectrum of extra-muscular manifestations seen in the condition. Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study Chiara Pizzamiglio et al https://doi.org/10.1002/jimd.12438