Axonal Charcot-Marie-Tooth disease due to COQ7 mutation: expanding the genetic and clinical spectrum.

Zhang, Xin-Yun; Dong, Hai-Lin; Wu, Zhi-Ying

Zhang, Xin-Yun; Dong, Hai-Lin; Wu, Zhi-Ying.

Afiliação

Zhang XY; Department of Medical Genetics and Center for Rare Diseases, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China.
Dong HL; Liangzhu Laboratory, Zhejiang University Medical Center, Hangzhou 311121, China.
Wu ZY; Department of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou 310009, China.

Brain ; 146(12): e117-e119, 2023 12 01.

Article em En | MEDLINE | ID: mdl-37343138

Assuntos

Doença de Charcot-Marie-Tooth; Humanos; Doença de Charcot-Marie-Tooth/genética; Mutação/genética; Axônios; Fenótipo; Linhagem

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth Limite: Humans Idioma: En Revista: Brain Ano de publicação: 2023 Tipo de documento: Article País de afiliação: China

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