Associated Papers
Whole-exome sequencing detects PYGM variants in two adults with McArdle disease.
Thomas-Wilson A et al.
Cold Spring Harbor Molecular Case Studies, 2022
Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study.
Pizzamiglio C et al.
Journal of Inherited Metabolic Disease, 2021
Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations.
Vieitez I et al.
Neuromuscular Disorders : Nmd, 2011
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