Article
Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia.
Clinical genetics - 1 Feb 2023
Azuma Kenko, Horisawa Shiro, Mashimo Hideaki, Fukuda Mitsumasa, Kumada Satoko, Kawamata Takakazu, Taira Takaomi, Akagawa Hiroyuki
Abstract excerpt
SGCE myoclonus-dystonia is a monogenic form of dystonia with an autosomal dominant mode of inheritance that co-occurs with a myoclonic jerk. In this study, we present 12 Japanese patients from nine families with this disease. Targeted next-generation sequencing covering major causative genes for monogenic dystonias identified nine distinct SGCE mutations from each of the families: three nonsense, two frameshift,...
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