A novel C19ORF12 mutation in two MPAN sisters treated with deferiprone.

Chen, Sihui; Lai, Xiaohui; Fu, Jiajia; Yang, Jing; Zhao, Bi; Shang, Huifang; Huang, Rui; Chen, Xueping

Chen, Sihui; Lai, Xiaohui; Fu, Jiajia; Yang, Jing; Zhao, Bi; Shang, Huifang; Huang, Rui; Chen, Xueping.

Afiliação

Chen S; Department of Neurology, West China Hospital of Sichuan University, Chengdu, Sichuan Province, China.
Lai X; Department of Neurology, West China Hospital of Sichuan University, Chengdu, Sichuan Province, China.
Fu J; Department of Neurology, West China Hospital of Sichuan University, Chengdu, Sichuan Province, China.
Yang J; Department of Neurology, West China Hospital of Sichuan University, Chengdu, Sichuan Province, China.
Zhao B; Department of Neurology, West China Hospital of Sichuan University, Chengdu, Sichuan Province, China.
Shang H; Department of Neurology, West China Hospital of Sichuan University, Chengdu, Sichuan Province, China.
Huang R; Department of Neurology, West China Hospital of Sichuan University, Chengdu, Sichuan Province, China.
Chen X; Department of Neurology, West China Hospital of Sichuan University, Chengdu, Sichuan Province, China. chenxueping0606@sina.com.

BMC Neurol ; 23(1): 134, 2023 Mar 31.

Article em En | MEDLINE | ID: mdl-37004026

Assuntos

Proteínas Mitocondriais; Doenças Neurodegenerativas; Humanos; Deferiprona/uso terapêutico; Proteínas Mitocondriais/genética; Doenças Neurodegenerativas/genética; Mutação/genética; Proteínas de Membrana/genética; Ferro

Palavras-chave

C19orf12; DFP; Deferiprone; MPAN; Mitochondrial membrane protein-associated neurodegeneration; NBIA

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Neurodegenerativas / Proteínas Mitocondriais Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google