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Updated: Jul 13, 2025

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在免疫介导的神经病变的患者中,CANVAS相关的RFC1突变

Makito Hirano1, Motoi Kuwahara2, Yuko Yamagishi2

  • 1Department of Neurology, Kindai University, Faculty of Medicine, Ohno-Higashi, Osakasayama, Osaka, 589-8511, Japan. mahirano-neuro@umin.ac.jp.

Scientific reports
|October 18, 2023
PubMed
概括

RFC1基因突变与CANVAS和其他神经病变有关. 这项研究发现,这些RFC1突变发生在可治疗的免疫介导或脱髓化神经病变患者中,扩大了诊断可能性.

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