title: A novel RRM2B gene variant associated with Telbivudine-induced mitochondrial myopathy.
authors.affiliation: Department of Pathology (Neuropathology), Hospital Universitario 12 de Octubre, Madrid Research Institute, Spain. Electronic address: aurelio.hlain@salud.madrid.org.
authors.forename: Aurelio
authors.initials: A
authors.lastname: Hernández-Laín
authors.affiliation: Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain. Electronic address: mendezguerrero.antonio@gmail.com.
authors.forename: Antonio Méndez
authors.initials: AM
authors.lastname: Guerrero
authors.affiliation: Department of Neurology (Neuromuscular Unit), Hospital Universitario 12 de Octubre, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723 Madrid, Spain. Electronic address: c.dom.glez@gmail.com.
authors.forename: Cristina
authors.initials: C
authors.lastname: Domínguez-González
authors.affiliation: Department of Gastroenterology and Hepatology, Hospital Universitario 12 de Octubre, Madrid, Spain. Electronic address: ifvazquez@salud.madrid.org.
authors.forename: Inmaculada
authors.initials: I
authors.lastname: Fernández-Vázquez
authors.affiliation: Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain. Electronic address: david.gata@hotmail.com.
authors.forename: David Gata
authors.initials: DG
authors.lastname: Maya
authors.affiliation: Mitochondrial Diseases Laboratory, Hospital Universitario 12 de Octubre Research Institute, Madrid 28041, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723 Madrid, Spain. Electronic address: adelmiro@h12o.es.
authors.forename: Aitor
authors.initials: A
authors.lastname: Delmiro
authors.affiliation: Mitochondrial Diseases Laboratory, Hospital Universitario 12 de Octubre Research Institute, Madrid 28041, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723 Madrid, Spain. Electronic address: joaquin.arenas@salud.madrid.org.
authors.forename: Joaquín
authors.initials: J
authors.lastname: Arenas
authors.affiliation: Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain. Electronic address: jmruiz54@yahoo.es.
authors.forename: Juan Ruiz
authors.initials: JR
authors.lastname: Morales
authors.affiliation: Mitochondrial Diseases Laboratory, Hospital Universitario 12 de Octubre Research Institute, Madrid 28041, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723 Madrid, Spain. Electronic address: abencinar@hotmail.com.
authors.forename: Alberto
authors.initials: A
authors.lastname: Blázquez
authors.affiliation: Mitochondrial Diseases Laboratory, Hospital Universitario 12 de Octubre Research Institute, Madrid 28041, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723 Madrid, Spain. Electronic address: mmoran@h12o.es.
authors.forename: María
authors.initials: M
authors.lastname: Moran
authors.affiliation: Mitochondrial Diseases Laboratory, Hospital Universitario 12 de Octubre Research Institute, Madrid 28041, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723 Madrid, Spain. Electronic address: mamcasanueva@h12o.es.
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Martín
mesh_terms: D000368:Aged; D000998:Antiviral Agents / Q000008:administration & dosage / Q000633:toxicity*; D018797:Cell Cycle Proteins / Q000235:genetics*; D005260:Female; D019694:Hepatitis B, Chronic / Q000188:drug therapy / Q000601:surgery; D006801:Humans; D016031:Liver Transplantation; D017240:Mitochondrial Myopathies / Q000139:chemically induced* / Q000235:genetics*; D009154:Mutation; D012264:Ribonucleotide Reductases / Q000235:genetics*; D000077712:Telbivudine; D013936:Thymidine / Q000008:administration & dosage / Q000031:analogs & derivatives* / Q000633:toxicity
chemical_list: D000998:Antiviral Agents; D018797:Cell Cycle Proteins; D000077712:Telbivudine; C405947:RRM2B protein, human; D012264:Ribonucleotide Reductases; D013936:Thymidine
keywords: Genetics; Mitochondrial disorders; Muscle disease; Toxicology