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Updated: May 12, 2026

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在疑似线粒体疾病的深度表型和肌肉活检后,加速的外再分析

Elizabeth Pickup1, Steven A Moore2, Pim Suwannarat3

  • 1Division of Child Neurology, Children's National Hospital, Washington, District of Columbia.

Pediatric neurology
|May 24, 2024
PubMed
概括

即使有负的外体序列测序,肌肉活检也有助于诊断疑似线粒体疾病的患者. 这凸显了综合诊断方法对复杂遗传疾病的重要性.

关键词:
这就是AARS2的AARS2.氨基酸-tRNA合成酶缺乏症外基因负的外基因.线粒体疾病 线粒体疾病肌肉活检 肌肉活检

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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...