COQ7基因的双等位基因变异导致两个中国家系出现远端遗传性运动神经病。 - Suppr | 超能文献

Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families.

作者信息

Liu Xiao-Xuan, Wang Ning, Chen Yi-Kun, Lv Wen-Qi, Hong Jing-Mei, Xu Guo-Rong, Zhou Lin-Ying, Chen Wan-Jin, Fan Dong-Sheng, He Jin

机构信息

Department of Neurology of Peking University Third Hospital, Key Laboratory for Neuroscience, National Health Commission/Ministry of Education, Peking University, 100191 Beijing, China.

Beijing Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases, Peking University Third Hospital, 100191 Beijing, China.

出版信息

Brain. 2023 May 2;146(5):e27-e30. doi: 10.1093/brain/awad040.

DOI:10.1093/brain/awad040

Abstract

摘要

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Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families.COQ7基因的双等位基因变异导致两个中国家系出现远端遗传性运动神经病。

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