A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants.

Li, Wenhui; Zhang, Min; Zhang, Linmei; Shi, Yiyun; Zhao, Lei; Wu, Bingbing; Li, Xihua; Zhou, Shuizhen

Li, Wenhui; Zhang, Min; Zhang, Linmei; Shi, Yiyun; Zhao, Lei; Wu, Bingbing; Li, Xihua; Zhou, Shuizhen.

Afiliação

Li W; Department of Neurology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
Zhang M; Department of Neurology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
Zhang L; Department of Neurology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
Shi Y; Department of Neurology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
Zhao L; Department of Neurology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
Wu B; Center for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China.
Li X; Key Laboratory of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.
Zhou S; Department of Neurology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.

BMC Neurol ; 20(1): 278, 2020 Jul 13.

Article em En | MEDLINE | ID: mdl-32660532

Assuntos

Encefalopatias Metabólicas Congênitas; Proteínas Mitocondriais/genética; Mutação de Sentido Incorreto/genética; Síndromes Miastênicas Congênitas; Transportadores de Ânions Orgânicos/genética; Encefalopatias Metabólicas Congênitas/genética; Encefalopatias Metabólicas Congênitas/fisiopatologia; Criança; Humanos; Masculino; Síndromes Miastênicas Congênitas/genética; Síndromes Miastênicas Congênitas/fisiopatologia; Fenótipo

Palavras-chave

Congenital myasthenic syndrome; D-2- and L-2-hydroxyglutaric aciduria; Phenotype; SLC25A1

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Encefalopatias Metabólicas Congênitas / Síndromes Miastênicas Congênitas / Transportadores de Ânions Orgânicos / Proteínas Mitocondriais Limite: Child / Humans / Male Idioma: En Revista: BMC Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China

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