Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability

Background: Hereditary myoclonus dystonia is often due to changes in the SGCE gene. Dystonia (DYT)-SGCE has a variable phenotype that can involve focal or generalized myoclonus and various forms of task-specific, segmental, or generalized dystonia. Psychiatric comorbidities are common. Case Repor...

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Bibliographic Details

Published in:	Tremor and Other Hyperkinetic Movements
Main Authors:	David G. Coughlin, Tanya M. Bardakjian, Meredith Spindler, Andres Deik
Format:	Article
Language:	English
Published:	Ubiquity Press 2018-03-01
Subjects:	DYT11 Intellectual disability Myoclonus dystonia SGCE Sarcoglycan Dystonia Neurology
Online Access:	https://tremorjournal.org/index.php/tremor/article/view/547