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Updated: Jul 20, 2026

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
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由"LITAF"基因中的p.R160H突变引起的外周神经病变

Leema Reddy Peddareddygari1, Raji P Grewal1,2

  • 1Dynamic Biologics Inc., 1 Deer Park Drive, Monmouth Junction, NJ, USA.

Journal of community hospital internal medicine perspectives
|October 23, 2023
PubMed
概括

基因检测发现了LITAF基因的新型突变,导致查尔科玛丽牙病1C型 (CMT1C) 的诊断. 这突显了下一代测序对未解释的神经病变的诊断能力.

关键词:
自体主导性遗传神经病变CMT1C 是一个CMT1C.这就是LITAF基因.轻微的脱髓神经病变是一种神经病变.

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