Abstract
Myoclonus-Dystonia (M-D) is a rare autosomal-dominant movement disorder characterized by myoclonic jerks in combination with dystonia and psychiatric features. Mutations in the Epsilon-sarcoglycan (SGCE, DYT11) gene have been found to cause M-D in 30%–50% of familial M-D. Sporadic cases have also been reported. The aim of study was to investigate whether the M-D phenotype is associated with the existence of SGCE mutations in Moroccan sporadic patients with M-D syndrome. The study included 12 M-D patients. We sequenced the entire coding region of the SGCE gene. We identified two different heterozygous SGCE mutations (c.769A > C ; c.391-3T > C). Our finding confirm that SGCE mutations can occur in sporadic patients when the phenotype is consistent with M-D. Further functional studies are needed to show how changes in SGCE protein function lead to the M–D phenotype.
Published Version
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