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

被引：30

作者：

Dombi, Eszter ^{[1
]}

Diot, Alan ^{[1
]}

Morten, Karl ^{[1
]}

Carver, Janet ^{[1
]}

Lodge, Tiffany ^{[1
]}

Fratter, Carl ^{[2
]}

Ng, Yi Shiau ^{[3
]}

Liao, Chunyan ^{[1
]}

Muir, Rebecca ^{[1
]}

Blakely, Emma L. ^{[3
]}

Hargreaves, Iain ^{[4
]}

Al-Dosary, Mazhor ^{[3
]}

Sarkar, Gopa ^{[5
]}

Hickman, Simon J. ^{[6
]}

Downes, Susan M. ^{[1
]}

Jayawant, Sandeep ^{[7
]}

Yu-Wai-Man, Patrick ^{[3
,8
,9
,10
]}

Taylor, Robert W. ^{[3
]}

Poulton, Joanna ^{[1
]}

机构：

[1] Univ Oxford, Oxford OX1 2JD, England

[2] Churchill Hosp, Oxford, England

[3] Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[4] UCLH, Natl Hosp Neurol & Neurosurg, Queen Sq, London, England

[5] Stoke Mandeville Hosp, Aylesbury HP21 8AL, Bucks, England

[6] Royal Hallamshire Hosp, Glossop Rd, Sheffield S10 2JF, S Yorkshire, England

[7] John Radcliffe Hosp, Oxford, England

[8] Royal Victoria Infirm, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England

[9] Moorfields Eye Hosp, London, England

[10] UCL Inst Ophthalmol, London, England

来源：

NEUROLOGY | 2016年 / 86卷 / 20期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

HEREDITARY OPTIC NEUROPATHY;

D O I：

10.1212/WNL.0000000000002688

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1921 / 1923

页数：3

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

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