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- 2018
Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual DisabilityDOI: 10.7916/D8J11FRZ Keywords: DYT11, intellectual disability, myoclonus dystonia, SGCE, sarcoglycan Abstract: 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
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