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

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

Abstract 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...

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Bibliographic Details
Main Authors: Takuya Morikawa, Shiroh Miura, Luoming Fan, Emina Watanabe, Ryuta Fujioka, Hiromichi Motooka, Shingo Yasumoto, Yusuke Uchiyama, Hiroki Shibata
Format: Article
Language:English
Published: Nature Publishing Group 2022-08-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-022-00207-8

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https://doi.org/10.1038/s41439-022-00207-8

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