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Xu, Xuebi; Ji, Kunqian; Lv, Jingwei; Zhang, Shu; Lv, Xiaoqing; Liu, Chang; Li, Wei; Yan, Chuanzhu; Zhao, Yuying
Chinese medical journal, 03/2019, Volume: 132, Issue: 6Journal Article
We report a case of a 58-year-old male who presented with stroke-like episodes and late-onset mitochondrial encephalopathy. Brain magnetic resonance imaging (MRI) revealed multiple lesions in different locations, including in the left hypothalamus, bilateral parietal lobe, left occipital lobe, centrum semiovale and right cerebellar hemisphere. Muscle histopathological analysis showed no myopathic changes. We identified a T14487C mutation in the mitochondrial DNA (mtDNA), which causes a M63V substitution in the mitochondrial NADH dehydrogenase 6 (ND6) of complex I of the mitochondrial respiratory chain. The mutation was heteroplasmic in muscle and urine sediment with different mutation loads, and it was absent in the patient's blood sample. This case further expands the clinical spectrum associated with m.14487T>C mutation.This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0.
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