Article
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.
Orphanet journal of rare diseases - 12 May 2017
Nasca Alessia, Rizza Teresa, Doimo Mara, Legati Andrea, Ciolfi Andrea, Diodato Daria, Calderan Cristina, Carrara Gianfranco, Lamantea Eleonora, Aiello Chiara, Di Nottia Michela, Niceta Marcello, Lamperti Costanza, Ardissone Anna, Bianchi-Marzoli Stefania, Iarossi Giancarlo, Bertini Enrico, Moroni Isabella, Tartaglia Marco, Salviati Leonardo, Carrozzo Rosalba, Ghezzi Daniele
Abstract excerpt
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 to opt...
Topics
- Blotting, Western
- Brain Diseases
- Child, Preschool
- Electrophysiology
- GTP Phosphohydrolases
- Humans
- Infant
- Male
- Microscopy, Fluorescence
- Mutation