A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS-like alternating hemiplegia.

Zhang, Xin; Qiu, Shiyan; Yang, Li; Li, Yufen; Xu, Liyun; Xu, Na; Mi, Changrui; Li, Menglin

Zhang, Xin; Qiu, Shiyan; Yang, Li; Li, Yufen; Xu, Liyun; Xu, Na; Mi, Changrui; Li, Menglin.

Afiliación

Zhang X; Department of Pediatrics, Linyi People's Hospital, Postgrad Training Base Jinzhou Med University, Linyi, People's Republic of China.
Qiu S; Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong, People's Republic of China.
Yang L; Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong, People's Republic of China.
Li Y; Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong, People's Republic of China.
Xu L; Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong, People's Republic of China.
Xu N; Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong, People's Republic of China.
Mi C; Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong, People's Republic of China.
Li M; Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong, People's Republic of China.

Mol Genet Genomic Med ; 11(5): e2146, 2023 05.

Article en En | MEDLINE | ID: mdl-36749827

Asunto(s)

Hemiplejía; Síndrome MELAS; Humanos; Pueblos del Este de Asia; Hemiplejía/genética; Síndrome MELAS/genética; ATPasa Intercambiadora de Sodio-Potasio/genética; Femenino; Niño

Palabras clave

ATP1A2; alternating hemiplegia of childhood; mutation

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndrome MELAS / Hemiplejía Idioma: En Revista: Mol Genet Genomic Med Año: 2023 Tipo del documento: Article

Texto completo

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PubMed Links

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndrome MELAS / Hemiplejía Idioma: En Revista: Mol Genet Genomic Med Año: 2023 Tipo del documento: Article