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在临床诊断为遗传性多神经病症的患者中进行临床和遗传性重新评估

Louise Sloth Kodal1, Morten Duno2, Tina Dysgaard1

  • 1Department of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

European journal of neurology
|August 4, 2025
PubMed
概括

在没有遗传确认的情况下重新评估遗传性多神经病患者改善了诊断. 全基因组测序 (WGS) 确定了30%的遗传原因和14%的非遗传原因,提高了诊断精度.

关键词:
在CMT上使用CMT.查尔科特·玛丽·牙疾病在WGS上使用WGS.诊断 诊断 诊断 诊断 诊断 诊断遗传性多神经病变是一种遗传性多神经病变.重新评估的重新评估.重新分类的重新分类是什么整个基因组的测序.

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