McArdle disease - expanding the clinical phenotype

What this episode covers

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

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Frequently Asked Questions

How long is this episode of JIMD Podcasts?

This episode is 13 minutes long.

When was this JIMD Podcasts episode published?

This episode was published on October 8, 2021.

What is this episode about?

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...

Can I download this JIMD Podcasts episode?

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