一种与慢性进行性眼外肌麻痹和高肌酸激酶血症相关的新型线粒体 tRNA（Ile）点突变。
A novel mitochondrial tRNA(Ile) point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemia.
机构信息
Department of Molecular Neurobiology and Neuropathology, La Rabta, National Institute of Neurology, Tunis, Tunisia.
出版信息
J Neurol Sci. 2011 Jan 15;300(1-2):187-90. doi: 10.1016/j.jns.2010.08.065. Epub 2010 Sep 29.
We have sequenced the entire mitochondrial DNA (mtDNA) from a 54-year-old man with chronic progressive external ophthalmoplegia (PEO) and hyperCKemia. Muscle biopsy showed ragged red and SDH positive/COX negative fibres, and the biochemistry was suggestive mitochondrial respiratory chain dysfunction. Analysis of mtDNA revealed a heteroplasmic m. 4308G>A mutation in the transfer RNA isoleucine gene (MT-TI gene). Our report expands the genetic heterogeneity of PEO.
我们对一位 54 岁的慢性进行性眼外肌麻痹（PEO）和高肌酸激酶血症患者的整个线粒体 DNA（mtDNA）进行了测序。肌肉活检显示破碎红纤维和 SDH 阳性/COX 阴性纤维，生物化学检查提示线粒体呼吸链功能障碍。mtDNA 分析显示在转移 RNA 异亮氨酸基因（MT-TI 基因）中存在 m.4308G>A 异质性突变。我们的报告扩展了 PEO 的遗传异质性。
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