由于 mtDNA tRNA(Leu(CUN)) 基因突变导致的进行性缓慢脑神经病伴听力损失。
Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.
机构信息
Department of Neurology, Columbia University Medical Center, New York, NY, USA.
出版信息
J Neurol Sci. 2010 Mar 15;290(1-2):166-8. doi: 10.1016/j.jns.2009.12.001. Epub 2009 Dec 22.
Abstract
Pathogenic mutations in the tRNA(Leu(UCN)) gene of mitochondrial DNA (mtDNA) have been invariably accompanied by skeletal myopathy with or without chronic progressive external ophthalmoplegia (CPEO). We report a young woman with a heteroplasmic m.12276G>A mutation in tRNA(Leu(UCN)), who had childhood-onset and slowly progressive encephalopathy with ataxia, cognitive impairment, and hearing loss. Sequencing of the 22 tRNA mitochondrial genes is indicated in all unusual neurological syndromes, even in the absence of maternal inheritance.
摘要
线粒体 DNA（mtDNA）tRNA（Leu（UCN））基因的致病性突变总是伴随着骨骼肌病，伴有或不伴有慢性进行性眼外肌麻痹（CPEO）。我们报告了一位年轻女性，她携带有 tRNA（Leu（UCN））中的 m.12276G>A 异质突变，患有儿童期发病且进展缓慢的脑病，伴有共济失调、认知障碍和听力损失。即使没有母系遗传，在所有不常见的神经综合征中，都应进行 22 个线粒体 tRNA 基因的测序。
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