Associated Papers
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
McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.
Nogales-Gadea G et al.
Human Mutation, 2015
High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease.
Duno M et al.
Annals of Human Genetics, 2009
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