title: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
authors.affiliation: 1 Unité Mixte de Recherche CNRS 6214 - INSERM 1083, Département de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France dobonneau@chu-angers.fr.
authors.forename: Dominique
authors.initials: D
authors.lastname: Bonneau
authors.affiliation: 1 Unité Mixte de Recherche CNRS 6214 - INSERM 1083, Département de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France.
authors.forename: Estelle
authors.initials: E
authors.lastname: Colin
authors.affiliation: 1 Unité Mixte de Recherche CNRS 6214 - INSERM 1083, Département de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France.
authors.forename: Florine
authors.initials: F
authors.lastname: Oca
authors.affiliation: 1 Unité Mixte de Recherche CNRS 6214 - INSERM 1083, Département de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France.
authors.forename: Marc
authors.initials: M
authors.lastname: Ferré
authors.affiliation: 1 Unité Mixte de Recherche CNRS 6214 - INSERM 1083, Département de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France.
authors.forename: Arnaud
authors.initials: A
authors.lastname: Chevrollier
authors.affiliation: 1 Unité Mixte de Recherche CNRS 6214 - INSERM 1083, Département de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France.
authors.forename: Naïg
authors.initials: N
authors.lastname: Guéguen
authors.affiliation: 1 Unité Mixte de Recherche CNRS 6214 - INSERM 1083, Département de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France.
authors.forename: Valérie
authors.initials: V
authors.lastname: Desquiret-Dumas
authors.affiliation: 2 Département de Neuropédiatrie, Centre Hospitalier Universitaire, Angers, France.
authors.forename: Sylvie
authors.initials: S
authors.lastname: N'Guyen
authors.affiliation: 1 Unité Mixte de Recherche CNRS 6214 - INSERM 1083, Département de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France.
authors.forename: Magalie
authors.initials: M
authors.lastname: Barth
authors.affiliation: 3 Clinique Sourdille, Nantes, France.
authors.forename: Xavier
authors.initials: X
authors.lastname: Zanlonghi
authors.affiliation: 4 AP-HP, Service de Génétique Médicale, Hôpital Necker, Paris, France.
authors.forename: Marlène
authors.initials: M
authors.lastname: Rio
authors.affiliation: 5 AP-HP, Service de Neuropédiatrie, Hôpital Necker, Université Paris Descartes, Paris, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Desguerre
authors.affiliation: 5 AP-HP, Service de Neuropédiatrie, Hôpital Necker, Université Paris Descartes, Paris, France.
authors.forename: Christine
authors.initials: C
authors.lastname: Barnerias
authors.affiliation: 6 AP-HP, Service d'Ophtalmologie, Hôpital Armand Trousseau, HUEP, Paris France.
authors.forename: Marta
authors.initials: M
authors.lastname: Momtchilova
authors.affiliation: 7 AP-HP, Service de Neuropédiatrie et Centre de Référence de Neurogénétique, Hôpital Armand Trousseau, HUEP; UMPC Université Paris 6; Inserm U1141; Paris, France.
authors.forename: Diana
authors.initials: D
authors.lastname: Rodriguez
authors.affiliation: 8 Laboratoire de Biochimie, AP-HP Hôpital Kremlin-Bicêtre, Paris, France.
authors.forename: Abdelhamid
authors.initials: A
authors.lastname: Slama
authors.affiliation: 9 Institut des Neurosciences de Montpellier, INSERM U1051. Hôpital Saint Eloi, Montpellier, France.
authors.forename: Guy
authors.initials: G
authors.lastname: Lenaers
authors.affiliation: 1 Unité Mixte de Recherche CNRS 6214 - INSERM 1083, Département de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France.
authors.forename: Vincent
authors.initials: V
authors.lastname: Procaccio
authors.affiliation: 1 Unité Mixte de Recherche CNRS 6214 - INSERM 1083, Département de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Amati-Bonneau
authors.affiliation: 1 Unité Mixte de Recherche CNRS 6214 - INSERM 1083, Département de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France.
authors.forename: Pascal
authors.initials: P
authors.lastname: Reynier
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D001259:Ataxia / Q000235:genetics*; D001766:Blindness / Q000209:etiology / Q000235:genetics; D002648:Child; D003248:Constipation / Q000209:etiology; D004247:DNA / Q000235:genetics; D003680:Deglutition Disorders / Q000209:etiology; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics* / Q000378:metabolism; D034381:Hearing Loss / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics / Q000502:physiology; D009896:Optic Atrophy / Q000151:congenital* / Q000235:genetics; D029241:Optic Atrophy, Autosomal Dominant / Q000150:complications / Q000235:genetics / Q000473:pathology; D010523:Peripheral Nervous System Diseases / Q000150:complications / Q000235:genetics / Q000473:pathology; D013035:Spasm / Q000235:genetics*
chemical_list: D004247:DNA; D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human