A novel TFG c.793C>G mutation in a Chinese pedigree with Charcot-Marie-Tooth disease 2.

Wu, Ding-Wen; Li, Yanfang; Yin, Xinzhen; Zhang, Baorong

Wu, Ding-Wen; Li, Yanfang; Yin, Xinzhen; Zhang, Baorong.

Afiliação

Wu DW; Department of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Li Y; Key Laboratory of Diagnosis and Treatment of Neonatal Diseases of Zhejiang Province, Hangzhou, China.
Yin X; Department of Pediatrics, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Zhang B; Department of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.

Brain Behav ; 10(9): e01724, 2020 09.

Article em En | MEDLINE | ID: mdl-32666699

Assuntos

Doença de Charcot-Marie-Tooth; Adulto; Doença de Charcot-Marie-Tooth/genética; China; Feminino; Humanos; Masculino; Mutação; Linhagem; Fenótipo; Proteínas

Palavras-chave

TFG; Charcot-Marie-Tooth disease 2; distal muscle atrophy; motor nerve conduction velocity; novel mutation

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth Limite: Adult / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Brain Behav Ano de publicação: 2020 Tipo de documento: Article

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