Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

被引：0
|
作者：
Alessia Nasca
Teresa Rizza
Mara Doimo
Andrea Legati
Andrea Ciolfi
Daria Diodato
Cristina Calderan
Gianfranco Carrara
Eleonora Lamantea
Chiara Aiello
Michela Di Nottia
Marcello Niceta
Costanza Lamperti
Anna Ardissone
Stefania Bianchi-Marzoli
Giancarlo Iarossi
Enrico Bertini
Isabella Moroni
Marco Tartaglia
Leonardo Salviati
Rosalba Carrozzo
Daniele Ghezzi
机构：
[1] Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,Unit of Molecular Neurogenetics
[2] Bambino Gesù Children’s Hospital,Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine
[3] IRCCS,Department of Woman and Child Health, Clinical Genetics Unit
[4] University of Padova,Istituto di Ricerca Pediatria, IRP
[5] Città della Speranza,Division of Genetics and Rare Diseases, Molecular Genetics and Genomics Unit
[6] Bambino Gesù Children’s Hospital,Unit of Child Neurology
[7] IRCCS,Department of Ophthalmology, Neuro
[8] Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,ophthalmology Unit
[9] IRCCS Istituto Auxologico Italiano,Department of Ophthalmology
[10] Bambino Gesù IRCSS Children’s Hospital,undefined
来源：
Orphanet Journal of Rare Diseases | / 12卷
关键词：
OPA1; Optic atrophy; Mitochondrial disorder; Encephalopathy; Recessive trait; Targeted resequencing; WES;
D O I：
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