title: Next-generation sequencing to estimate the prevalence of a great unknown: McArdle disease.
authors.affiliation: Department of Neurosciences, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol I Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona, Spain.
authors.forename: Gisela
authors.identifier: 000000027414212X
authors.initials: G
authors.lastname: Nogales-Gadea
authors.affiliation: 1] Department of Neurosciences, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol I Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona, Spain [2] Departament de Patologia Mitocondrial i Neuromuscular, Hospital Universitari Vall d'Hebron, Institut de Recerca (VHIR), Universitat Autónoma de Barcelona, Barcelona, Spain.
authors.forename: Tomàs
authors.initials: T
authors.lastname: Pinós
authors.affiliation: 1] Departament de Patologia Mitocondrial i Neuromuscular, Hospital Universitari Vall d'Hebron, Institut de Recerca (VHIR), Universitat Autónoma de Barcelona, Barcelona, Spain [2] Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.
authors.forename: Antoni L
authors.initials: AL
authors.lastname: Andreu
authors.affiliation: 1] Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain [2] Laboratorio de Enfermedades Mitocondriales y Neuromusculares. Hospital 12 de Octubre, Madrid, Spain [3] Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain.
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Martín
authors.affiliation: 1] Laboratorio de Enfermedades Mitocondriales y Neuromusculares. Hospital 12 de Octubre, Madrid, Spain [2] Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain.
authors.forename: Joaquin
authors.initials: J
authors.lastname: Arenas
authors.affiliation: 1] Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain [2] Universidad Europea, Madrid, Spain.
authors.forename: Alejandro
authors.initials: A
authors.lastname: Lucia
mesh_terms: D006012:Glycogen Storage Disease Type V / Q000453:epidemiology* / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D009154:Mutation; D015995:Prevalence; D013030:Spain / Q000453:epidemiology