title: The wide POLG-related spectrum: An integrated view.
authors.affiliation: Département de Neurologie, Hôpital Jean Minjoz, Besançon, France.
authors.forename: M
authors.initials: M
authors.lastname: Béreau
authors.affiliation: Unité des Pathologies du Mouvement, Service de Neurologie, Hôpital de Hautepierre, Strasbourg, France; Fédération de Médecine Translationnelle (FMTS), Faculté de Médecine, Strasbourg, France. Electronic address: mathieu.anheim@chru-strasbourg.fr.
authors.forename: M
authors.initials: M
authors.lastname: Anheim
authors.affiliation: Unité des Pathologies du Mouvement, Service de Neurologie, Hôpital de Hautepierre, Strasbourg, France; Fédération de Médecine Translationnelle (FMTS), Faculté de Médecine, Strasbourg, France; Centre de Référence Neuromusculaire Grand Est (CERNEST), France.
authors.forename: A
authors.initials: A
authors.lastname: Echaniz-Laguna
authors.affiliation: Centre de Référence des Maladies Neuromusculaires, CHU de Nantes - Hôtel Dieu, Nantes, France.
authors.forename: A
authors.initials: A
authors.lastname: Magot
authors.affiliation: Centre de Référence des Maladies Neurogénétiques, CHU d'Angers, Angers, France.
authors.forename: C
authors.initials: C
authors.lastname: Verny
authors.affiliation: Centre de Référence des Maladies Neurogénétiques, CHU d'Angers, Angers, France.
authors.forename: M
authors.initials: M
authors.lastname: Goideau-Sevrain
authors.affiliation: Département de Biochimie et Génétique, CHU d'Angers, Angers, France.
authors.forename: M
authors.initials: M
authors.lastname: Barth
authors.affiliation: Département de Biochimie et Génétique, CHU d'Angers, Angers, France.
authors.forename: P
authors.initials: P
authors.lastname: Amati-Bonneau
authors.affiliation: Service de Biochimie, Hôpital de la Côte de Nacre, CHU de Caen, France.
authors.forename: S
authors.initials: S
authors.lastname: Allouche
authors.affiliation: Département de Neurologie, CHRU de Montpellier, Montpellier, France.
authors.forename: X
authors.initials: X
authors.lastname: Ayrignac
authors.affiliation: Département de Neurologie, Hôpital Charles Nicolle, Rouen, France.
authors.forename: A-L
authors.initials: AL
authors.lastname: Bédat-Millet
authors.affiliation: Unité de Génétique Clinique, Hôpital Charles Nicolle, Rouen, France.
authors.forename: L
authors.initials: L
authors.lastname: Guyant-Maréchal
authors.affiliation: Department of Clinical Neuroscience, Lausanne University Hospital (CHUV), Lausanne, Switzerland.
authors.forename: T
authors.initials: T
authors.lastname: Kuntzer
authors.affiliation: Department of Clinical Neuroscience, Lausanne University Hospital (CHUV), Lausanne, Switzerland.
authors.forename: F
authors.initials: F
authors.lastname: Ochsner
authors.affiliation: Neurologie et Explorations Fonctionnelles Neurologiques, Centre de référence maladies neuromusculaires région Rône-Alpes, Hôpital de la Croix-Rousse, Lyon, France.
authors.forename: P
authors.initials: P
authors.lastname: Petiot
authors.affiliation: Service ENMG et Pathologies NeuroMusculaires, Hôpital Neurologique, Lyon-Bron, France.
authors.forename: C
authors.initials: C
authors.lastname: Vial
authors.affiliation: Department of Neurology, St. George's Hospital, London, UK.
authors.forename: S
authors.initials: S
authors.lastname: Omer
authors.affiliation: Département de Neurologie, CHU de Bordeaux, Bordeaux, France.
authors.forename: G
authors.initials: G
authors.lastname: Sole
authors.affiliation: Département de Neurologie, Hôpital Universitaire Carémeaux, Nîmes, France.
authors.forename: G
authors.initials: G
authors.lastname: Taieb
authors.affiliation: E.A. 481, Laboratoire de Neurosciences, Université de Franche-Comté, Besançon, France.
authors.forename: N
authors.initials: N
authors.lastname: Carvalho
authors.affiliation: Département de Statistiques, Centre d'Investigation Clinique et d'Innovations Technologiques, INSERM CIT-808, CHRU de Besançon, Besançon, France.
authors.forename: G
authors.initials: G
authors.lastname: Tio
authors.affiliation: Imagerie 2-Hôpital de Hautepierre-CHU de Strasbourg-Université de Strasbourg-Fédération de Médecine Translationnelle-I Cube, France.
authors.forename: S
authors.initials: S
authors.lastname: Kremer
authors.affiliation: Service des Maladies Héréditaires du Métabolisme, Centre de Biologie et de Pathologie Est, CHU Lyon, 69677 Bron, France.
authors.forename: C
authors.initials: C
authors.lastname: Acquaviva-Bourdain
authors.affiliation: Service des Maladies Héréditaires du Métabolisme, Centre de Biologie et de Pathologie Est, CHU Lyon, 69677 Bron, France.
authors.forename: B Mousson
authors.initials: BM
authors.lastname: de Camaret
authors.affiliation: Unité des Pathologies du Mouvement, Service de Neurologie, Hôpital de Hautepierre, Strasbourg, France; Fédération de Médecine Translationnelle (FMTS), Faculté de Médecine, Strasbourg, France.
authors.forename: C
authors.initials: C
authors.lastname: Tranchant
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D001921:Brain / Q000000981:diagnostic imaging; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D005060:Europe; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000145:classification / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D009132:Muscles / Q000473:pathology; D020125:Mutation, Missense; D010641:Phenotype; D012189:Retrospective Studies; D062606:Tertiary Care Centers; D055815:Young Adult
chemical_list: D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human
keywords: Genotype-phenotype correlations; POLG-related spectrum