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[Clinical and genetic analysis of childhood-onset myoclonus dystonia syndrome caused by SGCE variants].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Feb 2020

Tian X J, Ding C H, Zhang Y H, Dai L F, Chen C H, Li J W, Wang X, Han T L, Wang X H, Deng J

Abstract excerpt

Objective: To explore the clinical characteristics and genotyping results of childhood-onset myoclonus dystonia syndrome caused by SGCE variants. Methods: The clinical data of 9 children with SGCE-related myoclonus dystonia syndrome admitted at either the Department of Neurology, Beijing Children's Hospital, Capital Medical University or the Department of Pediatrics, Peking University First Hospital from May 2018...

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Age of Onset
Dystonia
Dystonic Disorders
Gene Deletion
Genetic Markers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscle, Skeletal

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PMID: 32102149
DOI: 10.3760/cma.j.issn.0578-1310.2020.02.011

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