Chronic Progressive External Ophthalmoplegia due to a Rare de novo m.12334G>A MT-TL2 Mitochondrial DNA Variant1.

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作者： Luke,O'Donnell ^[1] ; Emma L,Blakely ^[2] ; Karen,Baty ^[3] ; Michael,Alexander ^[2] ; Petya,Bogdanova-Mihaylova ^[3] ; John,Craig ^[4] ; Ronan,Walsh ^[5] ; Francesca,Brett ^[1] ; Robert W,Taylor ^[6] ; Sinead M,Murphy ^[7]

作者单位： Department of Neurology, Tallaght University Hospital, Tallaght, Dublin, Ireland. ^[1] Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom. ^[2] NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom. ^[3] Department of Neurophysiology, Tallaght University Hospital, Tallaght, Dublin, Ireland. ^[4] Academic Unit of Neurology, Trinity College Dublin, The University of Dublin, Dublin, Ireland. ^[5] Department of Neurology, Belfast Health and Social Care Trust, Belfast, United Kingdom. ^[6] Department of Neurology, Hermitage Medical Clinic, Dublin, Ireland. ^[7] Department of Neuropathology, Beaumont Hospital, Dublin, Ireland. ^[8]

关键词 CPEO Chronic progressive external ophthalmoplegia cytochrome c oxidase mitochondrial DNA

主题词细胞色素c氧化酶缺乏(Cytochrome-c Oxidase Deficiency);DNA, 线粒体(DNA, Mitochondrial);人类(Humans);眼肌麻痹, 慢性进行性外侧(Ophthalmoplegia, Chronic Progressive External);RNA, 转移, 亮氨酸(RNA, Transfer, Leu)

DOI 10.3233/JND-200486

PMID 32310184

发布时间 2024-03-06

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Journal of neuromuscular diseases

2020年7卷3期

355-360页

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Chronic Progressive External Ophthalmoplegia due to a Rare de novo m.12334G>A MT-TL2 Mitochondrial DNA Variant1.

Journal of neuromuscular diseases

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Journal of neuromuscular diseases

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Chronic Progressive External Ophthalmoplegia due to a Rare de novo m.12334G&gt;A MT-TL2 Mitochondrial DNA Variant1.

Journal of neuromuscular diseases

相似文献

Journal of neuromuscular diseases

相关期刊

检索历史清除

Chronic Progressive External Ophthalmoplegia due to a Rare de novo m.12334G>A MT-TL2 Mitochondrial DNA Variant1.