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Updated: Sep 12, 2025

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线粒体tRNAGlu基因中的一种新型m.14677 T > C变体导致慢性渐进的外部眼膜

Nahoko Katayama Ueda1,2,3, Masakazu Mimaki4,5, Shota Ito6

  • 1Medical Genome Center, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

Journal of human genetics
|August 6, 2025
PubMed
概括

一种新的线粒体DNA变体,m.14677 T>C在tRNAGlu基因中,已被确定为慢性渐进性外部眼 (CPEO) 的原因. 这一发现强调了单纤维分析在诊断线粒体疾病中的重要性.

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