Phenotype-driven reanalysis reveals five novel pathogenic variants in 40 exome-negative families with Charcot-Marie-Tooth Disease.

Lin, Zhiqiang; Liu, Lei; Li, Xiaobo; Huang, Shunxiang; Zhao, Huadong; Zeng, Sen; Yang, Honglan; Xie, Yongzhi; Zhang, Ruxu

Lin, Zhiqiang; Liu, Lei; Li, Xiaobo; Huang, Shunxiang; Zhao, Huadong; Zeng, Sen; Yang, Honglan; Xie, Yongzhi; Zhang, Ruxu.

Afiliação

Lin Z; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, 410013, China.
Liu L; Department of Neurology, Shenzhen Hospital, Southern Medical University, Shenzhen, China.
Li X; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, 410013, China.
Huang S; Health Management Center, The Third Xiangya Hospital, Central South University, Changsha, China.
Zhao H; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, 410013, China.
Zeng S; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, 410013, China.
Yang H; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, 410013, China.
Xie Y; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, 410013, China.
Zhang R; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, 410013, China.

J Neurol ; 271(1): 497-503, 2024 Jan.

Article em En | MEDLINE | ID: mdl-37776383

Assuntos

Doença de Charcot-Marie-Tooth; Adolescente; Humanos; Doença de Charcot-Marie-Tooth/diagnóstico; Doença de Charcot-Marie-Tooth/genética; Exoma; Mutação/genética; Fenótipo; Genótipo; Proteínas Mitocondriais/genética; Proteínas de Transporte de Fosfato/genética

Palavras-chave

CharcotMarieTooth disease; Reanalysis; Variant; Whole exome sequencing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth Tipo de estudo: Guideline / Prognostic_studies Limite: Adolescent / Humans Idioma: En Revista: J Neurol Ano de publicação: 2024 Tipo de documento: Article País de afiliação: China

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