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Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.

作者信息

Yu-Wai-Man Patrick, Chinnery Patrick F

机构信息

1 Departments of Neurology and Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, UK 2 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK

1 Departments of Neurology and Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, UK 2 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

出版信息

Brain. 2014 Oct;137(Pt 10):e302. doi: 10.1093/brain/awu187. Epub 2014 Jul 10.

DOI:10.1093/brain/awu187
PMID:25012222
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4163031/
Abstract
摘要

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本文引用的文献

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Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the Gene.贝赫综合征通常与线粒体翻译紊乱及该基因的突变有关。
J Neuromuscul Dis. 2014;1(1):55-63. doi: 10.3233/JND-140003.
2
Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.由于OPA1基因复合杂合突变导致的早发型贝赫综合征
Brain. 2014 Oct;137(Pt 10):e301. doi: 10.1093/brain/awu184. Epub 2014 Jul 10.
3
Treatment strategies for inherited optic neuropathies: past, present and future.遗传性视神经病变的治疗策略：过去、现在与未来。
Eye (Lond). 2014 May;28(5):521-37. doi: 10.1038/eye.2014.37. Epub 2014 Mar 7.
4
Dominant optic atrophy: novel OPA1 mutations and revised prevalence estimates.显性视神经萎缩：新型OPA1突变及修订后的患病率估计
Ophthalmology. 2013 Aug;120(8):1712-1712.e1. doi: 10.1016/j.ophtha.2013.04.022.
5
The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.人类 OPA1delTTAG 突变诱导小鼠过早的与年龄相关的系统性神经退行性变。
Brain. 2012 Dec;135(Pt 12):3599-613. doi: 10.1093/brain/aws303.
6
Dysfunctional mitochondrial maintenance: what breaks the circle of life?功能失调的线粒体维持：是什么打破了生命的循环？
Brain. 2012 Jan;135(Pt 1):9-11. doi: 10.1093/brain/awr352. Epub 2012 Jan 23.
7
Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.早发型严重神经肌肉表型与 OPA1 突变的复合杂合性相关。
Mol Genet Metab. 2011 Aug;103(4):383-7. doi: 10.1016/j.ymgme.2011.04.018. Epub 2011 May 7.
8
Heterozygous OPA1 mutations in Behr syndrome.贝赫综合征中的杂合型OPA1突变。
Brain. 2011 Apr;134(Pt 4):e169; author reply e170. doi: 10.1093/brain/awq306. Epub 2010 Nov 26.
9
Multi-system neurological disease is common in patients with OPA1 mutations.OPA1 突变患者常出现多系统神经病变。
Brain. 2010 Mar;133(Pt 3):771-86. doi: 10.1093/brain/awq007. Epub 2010 Feb 15.
10
OPA1 functions in mitochondria and dysfunctions in optic nerve.OPA1在线粒体中发挥作用，在视神经中功能异常。
Int J Biochem Cell Biol. 2009 Oct;41(10):1866-74. doi: 10.1016/j.biocel.2009.04.013. Epub 2009 Apr 21.