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

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

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.

Afiliação

Liu XX; Department of Neurology of Peking University Third Hospital, Key Laboratory for Neuroscience, National Health Commission/Ministry of Education, Peking University, 100191 Beijing, China.
Wang N; Beijing Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases, Peking University Third Hospital, 100191 Beijing, China.
Chen YK; 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.
Lv WQ; 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.
Hong JM; 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.
Xu GR; 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.
Zhou LY; 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.
Chen WJ; Electron Microscopy Lab of Public Technology Service Center, Fujian Medical University, 350122 Fuzhou, China.
Fan DS; 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.
He J; Department of Neurology of Peking University Third Hospital, Key Laboratory for Neuroscience, National Health Commission/Ministry of Education, Peking University, 100191 Beijing, China.

Brain ; 146(5): e27-e30, 2023 05 02.

Article em En | MEDLINE | ID: mdl-36758993

Assuntos

População do Leste Asiático; Neuropatia Hereditária Motora e Sensorial; Humanos; Mutação

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neuropatia Hereditária Motora e Sensorial / População do Leste Asiático Limite: Humans Idioma: En Revista: Brain Ano de publicação: 2023 Tipo de documento: Article País de afiliação: China

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