Article
Identification and prenatal genetic testing of pathogenic variants in a case of myoclonus-dystonia syndrome.
Yi chuan = Hereditas - 1 Jun 2026
Ou Han-Xiao, Zhou Xia, Chen Li-Ya, Cai Wei, Zhang Wen-Mao, Zhu Qun, Mu Hong-Xiang
Abstract excerpt
Myoclonus-dystonia syndrome (MDS) is a movement disorder syndrome characterized primarily by myoclonus as the core feature. In this study, we reported a case of MDS with myoclonus as the prominent feature, which was accompanied by learning disability and special face. We then used copy number variation sequencing (CNV-seq), whole exome sequencing (WES) and Sanger sequencing to verify the MDS related genes of the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.