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A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome
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Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21
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Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families
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The importance of gene dosage studies: Mutational analysis of the parkin gene in early-onset parkinsonism
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Genetic testing for early-onset torsion dystonia (DYT1): Introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects
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Klein C, Friedman J, Bressman S, et al. Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects. Genet Test 1999;3:323-8.
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Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity
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Valente EM, Misbahuddin A, Brancati F, et al. Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. Mov Disord 2003;18:1047-51.
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