OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

Mutations in the Optic Atrophy 1 gene (OPA1) were first identified in 2000 as the main cause of Dominant Optic Atrophy, a disease specifically affecting the retinal ganglion cells and the optic nerve. Since then, an increasing number of symptoms involving the central, peripheral and autonomous nervo...

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Main Authors: Juan Manuel Chao de la Barca, Delphine Prunier-Mirebeau, Patrizia Amati-Bonneau, Marc Ferré, Emmanuelle Sarzi, Céline Bris, Stéphanie Leruez, Arnaud Chevrollier, Valérie Desquiret-Dumas, Naïg Gueguen, Christophe Verny, Christian Hamel, Dan Miléa, Vincent Procaccio, Dominique Bonneau, Guy Lenaers, Pascal Reynier
Format: Article
Language:English
Published: Elsevier 2016-06-01
Series:Neurobiology of Disease
Subjects:
Mitochondria
Mitochondrial dynamics
OPA1
Optic neuropathy
Oxidative phosphorylation
Retinal ganglion cells
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996115300358

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http://www.sciencedirect.com/science/article/pii/S0969996115300358

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