The 13042G->A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype
Author:
Publisher
BMJ
Subject
Genetics(clinical),Genetics
Cited by 23 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. Two cases of MT-ND5-related mitochondrial disorder misdiagnosed as seronegative neuromyelitis optica spectrum disorder;Multiple Sclerosis Journal;2023-05-25
2. A different pattern of clinical, muscle pathology and brain MRI findings in MELAS with mt‐ND variants;Annals of Clinical and Translational Neurology;2023-05-23
3. Leber Hereditary Optic Neuropathy in a Family of Carriers of MT-ND5 m.13042G>T (A236S) Novel Variant;Journal of Neuro-Ophthalmology;2023-03-10
4. Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant;Frontiers in Genetics;2022-06-03
5. The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes;Mitochondrion;2021-09
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