A Japanese family with dystonia due to a pathogenic variant in SGCE

Dystonia (DYT) is a heterogeneous neurological disorder, and there are many types of DYT depending on the responsible genes. DYT11 is an autosomal dominant DYT caused by functional variants in the SGCE gene. We examined a Japanese patient with myoclonic dystonia. By using exome analysis, we identifi...

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Detalles Bibliográficos
Autores principales: Morikawa, Takuya, Miura, Shiroh, Fan, Luoming, Watanabe, Emina, Fujioka, Ryuta, Motooka, Hiromichi, Yasumoto, Shingo, Uchiyama, Yusuke, Shibata, Hiroki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9395531/
https://www.ncbi.nlm.nih.gov/pubmed/35995778
http://dx.doi.org/10.1038/s41439-022-00207-8

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