A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy

A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy

Abstract Autosomal dominant optic atrophy (ADOA) is a neuro-ophthalmic condition characterized by bilateral degeneration of the optic nerves. Although heterozygous mutations in OPA1 represent the most common genetic cause of ADOA, a significant number of cases remain undiagnosed. Here, we describe a...

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Bibliographic Details
Main Authors: Valentina Baderna, Joshua Schultz, Lisa S. Kearns, Michael Fahey, Bryony A. Thompson, Jonathan B. Ruddle, Aamira Huq, Francesca Maltecca
Format: Article
Language:English
Published: BMC 2020-06-01
Series:Acta Neuropathologica Communications
Subjects:
AFG3L2
OPA1
Optic atrophy
Mitochondrial fragmentation
Online Access:http://link.springer.com/article/10.1186/s40478-020-00975-w

Internet

http://link.springer.com/article/10.1186/s40478-020-00975-w

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