Toggle Main Menu Toggle Search

Open Access padlockePrints

The Newcastle University research output collection, currently available on ePrints, will shortly be moving to a new open repository platform, Figshare. To prepare for the data migration we have paused adding new content to ePrints, and will resume once the new repository is launched. During this time you will continue to have access to ePrints (but no new content will appear). We will share updates here when available.

The m.13051G > A mitochondrial DNA mutation results in variable neurology and activated mitophagy

Lookup NU author(s): Dr Yi Ng, Dr Patrick Yu Wai Man, Professor Robert TaylorORCiD

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.

Abstract

Maternally inherited mitochondrial DNA (mtDNA) mutations cause symptoms of Leber hereditary optic neuropathy (LHON) in approximate to 1 in 30,000 individuals. Most of the affected individuals lack respiratory chain defects(1) and there is no proven prophylactic treatment.

Publication metadata

Author(s): Dombi E, Diot A, Morten K, Carver J, Lodge T, Fratter C, Ng YS, Liao CY, Muir R, Blakely EL, Hargreaves I, Al-Dosary M, Sarkar G, Hickman SJ, Downes SM, Jayawant S, Yu-Wai-Man P, Taylor RW, Poulton J

Publication type: Editorial

Publication status: Published

Journal: Neurology

Year: 2016

Volume: 86

Issue: 20

Pages: 1921-1923

Print publication date: 17/05/2016

Online publication date: 22/04/2016

Acceptance date: 25/01/2016

ISSN (print): 0028-3878

ISSN (electronic): 1526-632X

Publisher: Lippincott Williams & Wilkins

URL: http://dx.doi.org/10.1212/WNL.0000000000002688

DOI: 10.1212/WNL.0000000000002688

Share