A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion.

Kollberg G; Darin N; Benan K; Moslemi AR; Lindal S; Tulinius M; Oldfors A; Holme E

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A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion.

机译：一种新型的纯合子RRM2B错义突变与严重的mtDNA耗竭有关。

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This report describes two brothers, both deceased in infancy, with severe depletion of mitochondrial DNA (mtDNA) in muscle tissue. Both had feeding difficulties, failure to thrive, severe muscular hypotonia and lactic acidosis. One of the boys developed a renal proximal tubulopathy. A novel homozygous c.686 G-->T missense mutation in the RRM2B gene, encoding the p53-inducible ribonucleotide reductase subunit (p53R2), was identified. This is the third report on mutations in RRM2B associated with severe mtDNA depletion, which further highlights the importance of de novo synthesis of deoxyribonucleotides (dNTPs) for mtDNA maintenance.

机译：该报告描述了两个婴儿，均在婴儿期死亡，肌肉组织中线粒体DNA（mtDNA）严重消耗。两者都有进食困难，无法ive壮成长，严重的肌张力低下和乳酸性酸中毒。其中一个男孩患了肾近端肾小管病。鉴定出RRM2B基因中一个新的纯合子c.686 G-> T错义突变，该突变编码p53诱导型核糖核苷酸还原酶亚基（p53R2）。这是关于与严重的mtDNA耗竭有关的RRM2B突变的第三份报告，这进一步强调了从头合成脱氧核糖核苷酸（dNTPs）对于mtDNA维持的重要性。

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《Neuromuscular disorders: NMD》 |2009年第2期|共4页
作者
Kollberg G; Darin N; Benan K; Moslemi AR; Lindal S; Tulinius M; Oldfors A; Holme E;
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正文语种 eng
中图分类神经病学与精神病学;
关键词
DNA; Mitochondrial; novel; Mutation; Missense; Relationship by association; DNA; 线粒体; 突变; 误义;

机译：DNA;Mitochondrial;novel;Mutation;Missense;Relationship by association;DNA;线粒体;突变;误义;

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1. A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion. [J] . Kollberg G, Darin N, Benan K, Neuromuscular disorders: NMD . 2009,第2期

机译：一种新型的纯合子RRM2B错义突变与严重的mtDNA耗竭有关。
2. A homozygous RPL10L missense mutation associated with male factor infertility and severe oligozoospermia [J] . Fertility and Sterility: Official Journal of the American Fertility Society, Pacific Coast Fertility Society, and the Canadian Fertility and Andrology Society . 2020,第3期

机译：与男性因子不孕症和严重的少菌血症相关的纯合RPL10L畸形突变
3. Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy [J] . Dilaver N., Mazaheri N., Maroofian R., Molecular syndromology . 2018,第1期

机译：在没有肌病的情况下，RYR1的新型纯合子错义突变导致严重的先天性眼睑下垂，眼肌麻痹和脊柱侧弯
4. Simulation Study of the Arrhythmogenic Effects of Two Missense Mutations in Human Atrial Fibrillation [C] . Rebecca Belletti, Laura Martinez Mateu, Lucia Romero Pérez, Computing in Cardiology . 2020

机译：两种畸形突变在人心房颤动中的血液发生影响的仿真研究
5. Homozygous protein C deficiency: identification of a novel missense mutation that causes impaired secretion of the mutant protein C [D] . Yamamoto Koji, Matsushita Tadashi, Sugiura Isamu, 1992

机译：纯合蛋白C缺乏症：鉴定导致突变蛋白C分泌受损的新型错义突变
6. Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis Ophthalmoplegia and Scoliosis in the Absence of Myopathy [O] . Nafi Dilaver, Neda Mazaheri, Reza Maroofian, 2017

机译：在没有肌病的情况下RYR1的新型纯合子错义突变导致严重的先天性眼睑下垂眼肌麻痹和脊柱侧弯
7. Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy [O] . Nafi Dilaver, Neda Mazaheri, Reza Maroofian, 2017

机译：新型纯合的畸形突变在 ryr1 中导致严重的先天性皮，眼科病症和脊柱病在没有肌病的情况下

A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion.

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