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Expression of Glycogen Phosphorylase Isoforms in Cultured Muscle from Patients with McArdle's Disease Carrying the p.R771PfsX33 PYGM Mutation

  • Gisela Nogales-Gadea ,

    Contributed equally to this work with: Gisela Nogales-Gadea, Emma Mormeneo

    Affiliations Departament de Patologia Mitocondrial i Neuromuscular, Institut de Recerca, Hospital Universitari Vall d'Hebron, Barcelona, Spain, Spanish Network for Research in Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

  • Emma Mormeneo ,

    Contributed equally to this work with: Gisela Nogales-Gadea, Emma Mormeneo

    Affiliations Departament de Bioquímica i Biología Molecular, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain, Diabetes and Associated Metabolic Disorders (CIBERDEM), Instituto de Salud Carlos III, Madrid, Spain

  • Inés García-Consuegra,

    Affiliations Centro de Investigación, Hospital Universitario 12 de Octubre, Madrid, Spain, Spanish Network for Research in Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

  • Juan C. Rubio,

    Affiliations Centro de Investigación, Hospital Universitario 12 de Octubre, Madrid, Spain, Spanish Network for Research in Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

  • Anna Orozco,

    Affiliations Departament de Bioquímica i Biología Molecular, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain, Diabetes and Associated Metabolic Disorders (CIBERDEM), Instituto de Salud Carlos III, Madrid, Spain

  • Joaquin Arenas,

    Affiliation Centro de Investigación, Hospital Universitario 12 de Octubre, Madrid, Spain

  • Miguel A. Martín,

    Affiliations Centro de Investigación, Hospital Universitario 12 de Octubre, Madrid, Spain, Spanish Network for Research in Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

  • Alejandro Lucia,

    Affiliation Universidad Europea de Madrid, Madrid, Spain

  • Anna M. Gómez-Foix,

    Affiliations Departament de Bioquímica i Biología Molecular, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain, Diabetes and Associated Metabolic Disorders (CIBERDEM), Instituto de Salud Carlos III, Madrid, Spain

  • Ramon Martí ,

    rmarti@ir.vhebron.net

    Affiliations Departament de Patologia Mitocondrial i Neuromuscular, Institut de Recerca, Hospital Universitari Vall d'Hebron, Barcelona, Spain, Spanish Network for Research in Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

  • Antoni L. Andreu

    Affiliations Departament de Patologia Mitocondrial i Neuromuscular, Institut de Recerca, Hospital Universitari Vall d'Hebron, Barcelona, Spain, Spanish Network for Research in Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

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