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Myoclonus-Dystonia Syndrome : e-Sarcoglycan Mutations and Phenotype.

Ann. Neurol. 52, 489-492 (2002)
DOI
Open Access Green as soon as Postprint is submitted to ZB.
Mutations in the gene for ε-sarcoglycan (SGCE) have been found to cause myoclonus-dystonia syndrome. We now report clinical and genetic findings in nine additional European families with myoclonus-dystonia syndrome. The clinical presentation in 24 affecteds was homogeneous with myoclonus predominantly of neck and upper limbs in 23 of them and dystonia, presenting as cervical dystonia and/or writer's cramp, in 13 cases. Six novel and one previously known heterozygous SGCE mutations were identified. SGCE deficiency seems to be the common pathogenetic mechanism in myoclonus-dystonia syndrome.
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Publication type Article: Journal article
Document type Scientific Article
Reviewing status