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Neurology. 2005 Feb 22;64(4):737-9.

The epsilon-sarcoglycan gene in myoclonic syndromes.

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IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy.


Mutations in the epsilon-sarcoglycan gene (SGCE) are associated with familial myoclonus dystonia, but the full spectrum of the phenotype may not be fully defined. We screened 58 individuals with a range of myoclonic/dystonic syndromes for SGCE mutations. We found mutations (three of them novel) in six (21%) of the 29 patients with essential myoclonus and myoclonic dystonia, but did not find mutations in the 29 patients with other phenotypes.

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