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Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA () variant.

作者信息

Poole Olivia V, Horga Alejandro, Hardy Steven A, Bugiardini Enrico, Woodward Cathy E, Hargreaves Iain P, Merve Ashirwad, Quinlivan Rosaline, Taylor Robert W, Hanna Michael G, Pitceathly Robert D S

机构信息

Department of Neuromuscular Diseases (O.V.P., A.H., E.B., R.Q., M.G.H., R.D.S.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom; Wellcome Centre for Mitochondrial Research (S.A.H., R.W.T.), Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne; Neurogenetics Unit (C.E.W.), and Neurometabolic Unit (I.P.H.), The National Hospital for Neurology and Neurosurgery; Division of Neuropathology (A.M.), UCL Queen Square Institute of Neurology; Department of Histopathology (A.M.), Camelia Botnar Laboratory, Great Ormond Street Hospital; and Dubowitz Neuromuscular Centre (R.Q.), Great Ormond Street Hospital, London, United Kingdom.

出版信息

Neurol Genet. 2020 Mar 18;6(2):e413. doi: 10.1212/NXG.0000000000000413. eCollection 2020 Apr.

DOI:10.1212/NXG.0000000000000413
PMID:32337339
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7164964/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93ed/7164964/728c71287871/NG2019011353f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93ed/7164964/728c71287871/NG2019011353f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93ed/7164964/728c71287871/NG2019011353f1.jpg

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引用本文的文献

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Multisystem Mitochondrial Disease Associated With a Mare m.10000G>A Mitochondrial tRNA (MT-TG) Variant.与马线粒体tRNA（MT-TG）m.10000G>A变异相关的多系统线粒体疾病。
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本文引用的文献

1
Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1.成人起病 Leigh 综合征与 MT-CO1 中新型终止密码子突变 m.6579G>A 相关。
Mitochondrion. 2019 Jul;47:294-297. doi: 10.1016/j.mito.2019.02.004. Epub 2019 Feb 8.
2
mtDNA Variation and Analysis Using Mitomap and Mitomaster.使用Mitomap和Mitomaster进行线粒体DNA变异与分析。
Curr Protoc Bioinformatics. 2013 Dec;44(123):1.23.1-26. doi: 10.1002/0471250953.bi0123s44.
3
Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.
致病性线粒体 tRNA 点突变：九个新突变证实了它们作为线粒体疾病病因的重要性。
Hum Mutat. 2013 Sep;34(9):1260-8. doi: 10.1002/humu.22358.
4
A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.一种用于确定线粒体 tRNA 突变致病性的比较分析方法。
Hum Mutat. 2011 Nov;32(11):1319-25. doi: 10.1002/humu.21575. Epub 2011 Sep 19.
5
Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough.确定线粒体tRNA突变的致病性：当“肯定也许”还不够好时。
Trends Genet. 2004 Dec;20(12):591-6. doi: 10.1016/j.tig.2004.09.014.
6
Haplotype-matched controls as a tool to discriminate polymorphisms from pathogenic mutations in mtDNA.单倍型匹配对照作为区分线粒体DNA多态性与致病突变的工具。
Hum Genet. 1999 Nov;105(5):513-4. doi: 10.1007/s004390051139.