Associated Papers
A Case Report of McArdle Disease Diagnosed Following Statin-Induced Myositis.
Teles JS et al.
Cureus, 2023
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
Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease).
Mahroo OA et al.
Ophthalmology, 2019
Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.
Núñez-Manchón J et al.
Journal of Inherited Metabolic Disease, 2018
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.
Santalla A et al.
Bmc Genomics, 2017
Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data.
De Castro M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?
de Luna N et al.
Neuromuscular Disorders : Nmd, 2014
Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.
Lucia A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2012
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