title: Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers.
authors.affiliation: 1 Dipartimento di Scienze Mediche di Base, Neuroscienze e Organi di Senso - Università degli Studi "Aldo Moro", Piazza G. Cesare, 70124, Bari, Italy.
authors.forename: Angelica
authors.initials: A
authors.lastname: Bianco
authors.affiliation: 2 Departamento de Bioquímica, Biología Molecular y Celular; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER); Instituto de Investigación Sanitaria de Aragón. Universidad de Zaragoza. 50013-Zaragoza, Spain.
authors.forename: Iñigo
authors.initials: I
authors.lastname: Martínez-Romero
authors.affiliation: 3 IRCCS Casa Sollievo della Sofferenza, UOC Genetica Medica, San Giovanni Rotondo, Italy.
authors.forename: Luigi
authors.initials: L
authors.lastname: Bisceglia
authors.affiliation: 3 IRCCS Casa Sollievo della Sofferenza, UOC Genetica Medica, San Giovanni Rotondo, Italy.
authors.forename: Leonardo
authors.initials: L
authors.lastname: D'Agruma
authors.affiliation: 1 Dipartimento di Scienze Mediche di Base, Neuroscienze e Organi di Senso - Università degli Studi "Aldo Moro", Piazza G. Cesare, 70124, Bari, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Favia
authors.affiliation: 2 Departamento de Bioquímica, Biología Molecular y Celular; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER); Instituto de Investigación Sanitaria de Aragón. Universidad de Zaragoza. 50013-Zaragoza, Spain 1 Dipartimento di Scienze Mediche di Base, Neuroscienze e Organi di Senso - Università degli Studi "Aldo Moro", Piazza G. Cesare, 70124, Bari, Italy.
authors.forename: Eduardo
authors.initials: E
authors.lastname: Ruiz-Pesini
authors.affiliation: 1 Dipartimento di Scienze Mediche di Base, Neuroscienze e Organi di Senso - Università degli Studi "Aldo Moro", Piazza G. Cesare, 70124, Bari, Italy.
authors.forename: Silvana
authors.initials: S
authors.lastname: Guerriero
authors.affiliation: 2 Departamento de Bioquímica, Biología Molecular y Celular; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER); Instituto de Investigación Sanitaria de Aragón. Universidad de Zaragoza. 50013-Zaragoza, Spain vittoria.petruzzella@uniba.it jmontoya@unizar.es.
authors.forename: Julio
authors.initials: J
authors.lastname: Montoya
authors.affiliation: 1 Dipartimento di Scienze Mediche di Base, Neuroscienze e Organi di Senso - Università degli Studi "Aldo Moro", Piazza G. Cesare, 70124, Bari, Italy vittoria.petruzzella@uniba.it jmontoya@unizar.es.
authors.forename: Vittoria
authors.initials: V
authors.lastname: Petruzzella
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D063269:Mitochondrial Turnover / Q000235:genetics*; D029242:Optic Atrophy, Hereditary, Leber / Q000175:diagnosis* / Q000235:genetics*; D019683:Penetrance
chemical_list: D004272:DNA, Mitochondrial