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Pitfalls in the diagnosis of mtDNA mutations.

作者信息

Seneca S, Lissens W, Liebaers I, van den Bergh P, Nassogne M C, Benatar A, de Meirleir L

出版信息

J Med Genet. 1998 Nov;35(11):963-4. doi: 10.1136/jmg.35.11.963.

DOI:10.1136/jmg.35.11.963
PMID:9832049
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051498/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2991/1051498/dd8983c9716c/jmedgene00240-0084-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2991/1051498/3dabc58c5831/jmedgene00240-0084-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2991/1051498/dd8983c9716c/jmedgene00240-0084-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2991/1051498/3dabc58c5831/jmedgene00240-0084-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2991/1051498/dd8983c9716c/jmedgene00240-0084-b.jpg

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Pitfalls in the diagnosis of mtDNA mutations.线粒体DNA突变诊断中的陷阱。
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2
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Mutations in mitochondrial DNA accumulate differentially in three different human tissues during ageing.衰老过程中，线粒体DNA突变在三种不同人体组织中的积累存在差异。
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引用本文的文献

1
A natural non-Watson-Crick base pair in human mitochondrial tRNAThr causes structural and functional susceptibility to local mutations.人类线粒体 tRNAThr 中的一种自然非 Watson-Crick 碱基对导致其对局部突变的结构和功能易感性。
Nucleic Acids Res. 2018 May 18;46(9):4662-4676. doi: 10.1093/nar/gky243.

本文引用的文献

1
Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.与线粒体tRNATrp基因单碱基插入相关的母系遗传脑病。
Ann Neurol. 1997 Aug;42(2):256-60. doi: 10.1002/ana.410420220.
2
A novel mutation in the mitochondrial tRNA(Thr) gene associated with a mitochondrial encephalomyopathy.
Biochem Biophys Res Commun. 1996 Aug 5;225(1):180-5. doi: 10.1006/bbrc.1996.1150.
3
Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitus.2型（非胰岛素依赖型）糖尿病候选线粒体tRNA基因的分子扫描
J Med Genet. 1996 Mar;33(3):253-5. doi: 10.1136/jmg.33.3.253.
4
Compilation of tRNA sequences and sequences of tRNA genes.转运RNA序列及转运RNA基因序列的汇编。
Nucleic Acids Res. 1996 Jan 1;24(1):68-72. doi: 10.1093/nar/24.1.68.
5
Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy.线粒体脑肌病患者线粒体tRNA基因的自动测序
Biochim Biophys Acta. 1994 Apr 12;1226(1):49-55. doi: 10.1016/0925-4439(94)90058-2.
6
Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene.与线粒体亮氨酸转运RNA（UUR）基因单核苷酸对缺失相关的线粒体脑肌病。
Neurology. 1995 Feb;45(2):286-92. doi: 10.1212/wnl.45.2.286.
7
Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.
Hum Mol Genet. 1995 Aug;4(8):1421-7. doi: 10.1093/hmg/4.8.1421.