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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 Taylor


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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


DOI: 10.1212/WNL.0000000000002688