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

Author:

Liu Xiao-xuan12,Wang Ning3,Chen Yi-kun3,Lv Wen-qi3,Hong Jing-Mei3,Xu Guo-Rong3,Zhou Lin-Ying4,Chen Wan-Jin3,Fan Dong-Sheng12,He Jin3

Affiliation:

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

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

3. Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University , 350005 Fuzhou , China

4. Electron Microscopy Lab of Public Technology Service Center, Fujian Medical University , 350122 Fuzhou , China

Funder

National Natural Science Foundation of China

Clinical Cohort Construction Program

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Reference5 articles.

1. Homozygous COQ7 mutation: A new cause of potentially treatable distal hereditary motor neuropathy;Jacquier;Brain

2. Heterozygous seryl-tRNA synthetase 1 variants cause Charcot-Marie-Tooth disease;He;Ann Neurol,2022

3. Structure and functionality of a multimeric human COQ7:COQ9 complex;Manicki;Mol Cell,2022

4. Dynamut: Predicting the impact of mutations on protein conformation, flexibility and stability;Rodrigues;Nucleic Acids Res.,2018

5. The fundamental role of flexibility on the strength of molecular binding;Forrey;Soft Matter,2012

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