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

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

Abstract Background Heterozygous mutations in OPA1 are a common cause of autosomal dominant optic atrophy, sometimes associated with extra-ocular manifestations. Few cases harboring compound heterozygous OPA1 mutations have been described manifesting complex neurodegenerative disorders in addition t...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: BMC 2017-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
OPA1
Optic atrophy
Mitochondrial disorder
Encephalopathy
Recessive trait
Targeted resequencing
Online Access:http://link.springer.com/article/10.1186/s13023-017-0641-1

Internet

http://link.springer.com/article/10.1186/s13023-017-0641-1

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