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Updated: Sep 10, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

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在COX18中双变异导致主要表现为外围神经病变的线粒体疾病

Camila Armirola-Ricaurte1,2, Laura Morant1,2, Isabelle Adant3,4

  • 1Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, 2610, Antwerp, Belgium.

Brain : a journal of neurology
|August 20, 2025
PubMed
概括

这项研究确定COX18是导致夏科特-玛丽-图斯病 (CMT) 的新基因. 在COX18突变破坏线粒体复合IV组装,导致轴突神经病变和潜在的中枢神经系统问题.

关键词:
在CMT复杂的IV缺陷细胞染色体c氧化酶组合因子18

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