Article
Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.
Pediatrics international : official journal of the Japan Pediatric Society - 1 Apr 2015
Wada Takahito, Takano Kyoko, Tsurusaki Yoshinori, Miyake Noriko, Nakashima Mitsuko, Saitsu Hirotomo, Matsumoto Naomichi, Osaka Hitoshi
Abstract excerpt
Myoclonus-dystonia syndrome (MDS) is a rare autosomal-dominant movement disorder characterized by brief, frequently alcohol-responsive myoclonic jerks that begin in childhood or early adolescence, caused by mutations in the ε-sarcoglycan gene (SGCE). The patient was a 6-year-old boy. At 2 years 8 months, he had abnormal movement when he ran due to dystonia of his left leg. At 3 years 5 months, he exhibited...
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