一例携带11778突变的非典型Leber遗传性视神经病变。 - Suppr

Suppr

超能文献

An atypical Leber's hereditary optic neuropathy with the 11778 mutation.

作者信息

Hotta Y, Hayakawa M, Fujiki K, Shinohara K, Sado K, Kanai A, Yanashima K

机构信息

Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan.

出版信息

Br J Ophthalmol. 1993 Nov;77(11):748-50. doi: 10.1136/bjo.77.11.748.

DOI:10.1136/bjo.77.11.748

PMID:8280696

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC504642/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bd4/504642/e3e9f334ca38/brjopthal00047-0067-a.jpg

相似文献

An atypical Leber's hereditary optic neuropathy with the 11778 mutation.一例携带11778突变的非典型Leber遗传性视神经病变。

Br J Ophthalmol. 1993 Nov;77(11):748-50. doi: 10.1136/bjo.77.11.748.

Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis.多发性硬化症中与莱伯遗传性视神经病变相关的线粒体DNA突变

Ann Neurol. 1994 Jul;36(1):109-12. doi: 10.1002/ana.410360121.

[Molecular genetic analysis for Leber's hereditary optic neuropathy (LHON)].[Leber遗传性视神经病变（LHON）的分子遗传学分析]

Nihon Rinsho. 1993 Sep;51(9):2396-402.

[Molecular genetic analysis of Leber's hereditary optic neuropathy with the 3460 mutation in Japanese pedigrees].[日本家系中伴有3460突变的Leber遗传性视神经病变的分子遗传学分析]

Nippon Ganka Gakkai Zasshi. 1995 Jun;99(6):728-34.

[Mitochondrial DNA mutation in Leber's hereditary optic neuropathy in China].[中国Leber遗传性视神经病变中的线粒体DNA突变]

Zhonghua Yi Xue Za Zhi. 1994 Jun;74(6):349-51, 390.

Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation.莱伯遗传性视神经病变合并肌张力障碍由线粒体DNA点突变引起。

Ann Neurol. 1995 Aug;38(2):163-9. doi: 10.1002/ana.410380207.

Mitochondrial DNA analysis of Leber's hereditary optic neuropathy.Leber遗传性视神经病变的线粒体DNA分析

Jpn J Ophthalmol. 1991;35(1):102-6.

Brainstem involvement in Leber's hereditary optic neuropathy: association with the 14,484 mitochondrial DNA mutation.脑干受累于Leber遗传性视神经病变：与线粒体DNA 14484突变的关联

J Neurol Neurosurg Psychiatry. 1996 Nov;61(5):533-4. doi: 10.1136/jnnp.61.5.533.

Mutation detection in Leber's hereditary optic neuropathy by PCR with allele-specific priming.

Biochem Biophys Res Commun. 1991 Mar 15;175(2):631-6. doi: 10.1016/0006-291x(91)91612-g.

Mutations in RPE65 cause Leber's congenital amaurosis.RPE65基因的突变会导致莱伯先天性黑蒙。

Nat Genet. 1997 Oct;17(2):139-41. doi: 10.1038/ng1097-139.

引用本文的文献

Ocular genetics in the Japanese population.日本人群的眼部遗传学。

Jpn J Ophthalmol. 2024 Sep;68(5):401-418. doi: 10.1007/s10384-024-01109-8. Epub 2024 Sep 14.

Retinitis pigmentosa with optic neuropathy and mutations: A case report.伴有视神经病变及突变的色素性视网膜炎：一例报告

Am J Ophthalmol Case Rep. 2022 Jan 20;25:101298. doi: 10.1016/j.ajoc.2022.101298. eCollection 2022 Mar.

Visual prognosis better in eyes with less severe reduction of visual acuity one year after onset of Leber hereditary optic neuropathy caused by the 11,778 mutation.由11778突变引起的Leber遗传性视神经病变发病一年后，视力下降程度较轻的眼睛视觉预后较好。

BMC Ophthalmol. 2017 Oct 18;17(1):192. doi: 10.1186/s12886-017-0583-3.

本文引用的文献

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.与莱伯遗传性视神经病变相关的线粒体DNA突变。

Science. 1988 Dec 9;242(4884):1427-30. doi: 10.1126/science.3201231.

The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation.伴有11778突变的Leber遗传性视神经病变家系的临床特征

Am J Ophthalmol. 1991 Jun 15;111(6):750-62. doi: 10.1016/s0002-9394(14)76784-4.

Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.Leber遗传性视神经病变：线粒体ND1基因受累及基因内抑制突变的证据。

Am J Hum Genet. 1991 May;48(5):935-42.

Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.与莱伯遗传性视神经病变相关的线粒体DNA复合体I和III突变。

Genetics. 1992 Jan;130(1):163-73. doi: 10.1093/genetics/130.1.163.

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.一种与Leber遗传性视神经视网膜病变相关的线粒体DNA新突变。

Am J Hum Genet. 1991 Jun;48(6):1147-53.

High frequency of mitochondrial ND4 gene mutation in Japanese pedigrees with Leber hereditary optic neuropathy.日本Leber遗传性视神经病变家系中线粒体ND4基因突变的高频率。

Jpn J Ophthalmol. 1992;36(1):56-61.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验