Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia

Azuma, K; Horisawa, S; Mashimo, H; Fukuda, M; Kumada, S; Kawamata, T; Taira, T; Akagawa, H

Akagawa, H (通讯作者)，Tokyo Womens Med Univ, Inst Comprehens Med Sci, Shinjuku Ku, 8-1 Kawada Cho, Tokyo 1628666, Japan.

CLINICAL GENETICS, 2023; 103 (2): 209

Abstract

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 s......

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