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Updated: Jun 29, 2025

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线粒体疾病基因的变异是遗传性外围神经病变的常见原因

Tomas Ferreira1, Kiran Polavarapu2, Catarina Olimpio1,3

  • 1Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, School of Clinical Medicine, University of Cambridge, Robinson Way, Cambridge, CB2 0PY, UK.

Journal of neurology
|March 29, 2024
PubMed
概括

线粒体基因中的遗传变异经常导致遗传性外围神经病变,包括夏科特-玛丽-图斯病. 整体外体或基因组测序可以改善对这些复杂遗传疾病的诊断.

关键词:
在CMT上使用CMT.遗传的异质性 遗传的异质性基因组现象分析平台 (GPAP) 是一个线粒体疾病 线粒体疾病周围神经病变 - 周围神经病变罕见的变种 罕见的变种

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