A novel missense pathogenic variant in NEFH causing rare Charcot-Marie-Tooth neuropathy type 2CC.

Yan, Junqiang; Qiao, Liang; Peng, Huifang; Liu, Anran; Wu, Jiannan; Huang, Jiarui

Yan, Junqiang; Qiao, Liang; Peng, Huifang; Liu, Anran; Wu, Jiannan; Huang, Jiarui.

Afiliação

Yan J; Laboratory of Molecular Neurobiology, The First Affiliated Hospital, College of Clinical Medicine of Henan University of Science and Technology, Luoyang, 471003, People's Republic Of China. yanjq@haust.edu.cn.
Qiao L; Department of Neurology, The First Affiliated Hospital, College of Clinical Medicine of Henan University of Science and Technology, Luoyang, 471003, People's Republic Of China. yanjq@haust.edu.cn.
Peng H; Department of Neurology, The First Affiliated Hospital, College of Clinical Medicine of Henan University of Science and Technology, Luoyang, 471003, People's Republic Of China.
Liu A; Laboratory of Molecular Neurobiology, The First Affiliated Hospital, College of Clinical Medicine of Henan University of Science and Technology, Luoyang, 471003, People's Republic Of China.
Wu J; Department of Neurology, The First Affiliated Hospital, College of Clinical Medicine of Henan University of Science and Technology, Luoyang, 471003, People's Republic Of China.
Huang J; Laboratory of Molecular Neurobiology, The First Affiliated Hospital, College of Clinical Medicine of Henan University of Science and Technology, Luoyang, 471003, People's Republic Of China.

Neurol Sci ; 42(2): 757-763, 2021 Feb.

Article em En | MEDLINE | ID: mdl-32780247

Assuntos

Doença de Charcot-Marie-Tooth; Doença de Charcot-Marie-Tooth/genética; Proteínas de Ligação a DNA; Heterozigoto; Humanos; Masculino; Mutação; Mutação de Sentido Incorreto; Proteínas de Neurofilamentos; Proteínas Nucleares; Linhagem

Palavras-chave

CMT2CC;; Charcot-Marie-Tooth;; Family; NEFH;; Variant;

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth Limite: Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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