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Listen "McArdle disease - expanding the clinical phenotype"
Episode Synopsis
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
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
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