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

Dombi E., Diot A., Morten K., Carver J., Lodge T., Fratter C., Ng YS., Liao C., 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.

DOI

10.1212/WNL.0000000000002688

Type

Journal article

Publication Date

2016-05-17T00:00:00+00:00

Volume

86

Pages

1921 - 1923

Total pages

2

Keywords

Acidosis, Lactic, Adolescent, Adult, Aged, Aged, 80 and over, Antioxidants, Cells, Cultured, Child, Child, Preschool, DNA, Mitochondrial, Female, Fibroblasts, Humans, Infant, Infant, Newborn, Leigh Disease, Male, Microtubule-Associated Proteins, Middle Aged, Mitochondrial Dynamics, Mitochondrial Membrane Transport Proteins, Mitochondrial Precursor Protein Import Complex Proteins, Mitophagy, Mutation, Neurology, Ubiquinone, Young Adult

Permalink More information Close