The epsilon-sarcoglycan gene in myoclonic syndromes

E. M. Valente, M. J. Edwards, P. Mir, A. DiGiorgio, S. Salvi, M. Davis, N. Russo, M. Bozi, H. T. Kim, G. Pennisi, N. Quinn, B. Dallapiccola, Kailash P. Bhatia

Research output: Contribution to journalArticle

Abstract

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 (four 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.

Original languageEnglish
Pages (from-to)737-739
Number of pages3
JournalNeurology
Volume64
Issue number4
Publication statusPublished - Feb 22 2005

ASJC Scopus subject areas

  • Neuroscience(all)

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    Valente, E. M., Edwards, M. J., Mir, P., DiGiorgio, A., Salvi, S., Davis, M., Russo, N., Bozi, M., Kim, H. T., Pennisi, G., Quinn, N., Dallapiccola, B., & Bhatia, K. P. (2005). The epsilon-sarcoglycan gene in myoclonic syndromes. Neurology, 64(4), 737-739.