Leber hereditary optic neuropathy and dystonia overlapping mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes due to m.14459G>A mutation-Reference-Cited by-同舟云学术

Leber hereditary optic neuropathy and dystonia overlapping mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes due to m.14459G>A mutation

Published:2021-03-29 Issue:12 Volume:42 Page:5123-5130
ISSN:1590-1874
Container-title:Neurological Sciences
language:en
Short-container-title:Neurol Sci

Author:

Yu Xiaolin,Ji Kunqian,Lin Yan,Xu Xuebi,Wang Wei,Li Ying,Lu Jian-Qiang,Zhao Yuying^ORCID,Yan Chuanzhu

Funder

National Natural Science Foundation of China

People's benefit project of science and technology in Qingdao

Qingdao Key Health Discipline Development Fund

Taishan Scholars Program of Shandong Province

Publisher

Springer Science and Business Media LLC

Subject

Psychiatry and Mental health,Clinical Neurology,Dermatology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s10072-021-05155-9.pdf

Reference29 articles.

1. Fassone E, Rahman S (2012) Complex I deficiency: clinical features, biochemistry and molecular genetics. J Med Genet 49(9):578–590

2. Jun AS, Brown MD, Wallace DC (1994) A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci U S A 91(13):6206–6210

3. Wallace DC, Lott MT (2017) Leber hereditary optic neuropathy: exemplar of an mtDNA disease. Handb Exp Pharmacol 240:339–376

4. Wallace DC, Singh G, Lott MT, Hodge J, Schurr T, Lezza A, Elsas L, Nikoskelainen E (1988) Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy. Science 242(4884):1427–1430

5. Shoffner JM, Brown MD, Stugard C, June AS, Pollock S, Haas RH, Kaufman A, Koontz D, Kim Y, Graham JR, Smith E, Dixon J, Wallace DC (1995) Leber’s hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation. Ann Neurol 38(2):163–169

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Relationship between Cellular Oxygen Consumption and Atherosclerosis-Associated Mitochondrial Mutations (Variants of the Mitochondrial Genome);Current Medicinal Chemistry;2024-06-14

2. A systematic review on the biochemical threshold of mitochondrial genetic variants;Genome Research;2024-04-16

3. Creation of Mitochondrial Disease Models Using Mitochondrial DNA Editing;Biomedicines;2023-02-12