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Updated: May 28, 2025

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
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由于SORD中的突变导致的Charcot-Marie-Tooth疾病的基因型和表型谱

Andrea Cortese1,2, Maike F Dohrn3,4, Riccardo Curro1,2

  • 1Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

Brain : a journal of neurology
|February 12, 2025
PubMed
概括

与SORD基因突变相关的Charcot-Marie-Tooth2型疾病 (CMT2) 是一种常见的衰退性神经病变. 血清比醇水平升高证实了诊断,并有助于评估SORD变体.

关键词:
这就是SORD SORD.阿尔多减少酶的作用.遗传性神经病变是一种遗传性神经病变.自然历史,自然历史.聚路径的多聚路径.

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