Diagnosis of Kearns-Sayre syndrome requires genetic confirmation.
作者信息
Finsterer Josef
机构信息
Neurology and Neurophysiology Center, Vienna, Austria.
出版信息
Indian J Ophthalmol. 2023 Jan;71(1):317-318. doi: 10.4103/ijo.IJO_2179_22.
Abstract
摘要
相似文献
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Diagnosis of Kearns-Sayre syndrome requires genetic confirmation.卡恩斯-塞尔综合征的诊断需要基因确认。
Indian J Ophthalmol. 2023 Jan;71(1):317-318. doi: 10.4103/ijo.IJO_2179_22.
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Diagnosing Kearns-Sayre Syndrome Requires Genetic Confirmation.诊断卡恩斯-塞尔综合征需要基因确认。
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本文引用的文献
1
Potpourri of retinopathies in rare eye disease - A case series.多种视网膜病变的罕见眼病病例系列报告。
Indian J Ophthalmol. 2022 Jul;70(7):2605-2609. doi: 10.4103/ijo.IJO_3002_21.
2
The Spectrum of Maculopathy in Mitochondrial DNA A3243G Mutation: A Case Series of Six Patients.线粒体 DNA A3243G 突变相关黄斑病变谱：六例患者的病例系列研究。
Klin Monbl Augenheilkd. 2021 Apr;238(4):414-417. doi: 10.1055/a-1386-5826. Epub 2021 Apr 30.
3
Unusual Phenotype and Disease Trajectory in Kearns-Sayre Syndrome.卡恩斯-塞尔综合征的异常表型与疾病轨迹
Case Rep Neurol Med. 2020 Feb 27;2020:7368527. doi: 10.1155/2020/7368527. eCollection 2020.
4
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.线粒体单链 DNA 结合蛋白新的从头 SSBP1 突变导致的单一大片段线粒体 DNA 缺失（SLSMD）患儿，临床表现为 Pearson、Kearns-Sayre 和 Leigh 综合征。
PLoS One. 2019 Sep 3;14(9):e0221829. doi: 10.1371/journal.pone.0221829. eCollection 2019.
5
Genetic Counselling for Maternally Inherited Mitochondrial Disorders.母系遗传线粒体疾病的遗传咨询
Mol Diagn Ther. 2017 Aug;21(4):419-429. doi: 10.1007/s40291-017-0279-7.
6
A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome.一名临床表型类似卡恩斯-塞尔综合征患者的转运RNA（亮氨酸）基因中出现新的线粒体点突变。
Arch Neurol. 2001 Jul;58(7):1113-8. doi: 10.1001/archneur.58.7.1113.
7
Kearns-Sayre syndrome "plus". Classical clinical findings and dystonia.
Arq Neuropsiquiatr. 1999 Dec;57(4):1017-23. doi: 10.1590/s0004-282x1999000600020.
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