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

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 journal › Article › peer-review

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 language	English
Pages (from-to)	737-739
Number of pages	3
Journal	Neurology
Volume	64
Issue number	4
Publication status	Published - Feb 22 2005

ASJC Scopus subject areas

Neuroscience(all)

Cite this

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title = "The epsilon-sarcoglycan gene in myoclonic syndromes",

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.",

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

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TY - JOUR

T1 - The epsilon-sarcoglycan gene in myoclonic syndromes

AU - Valente, E. M.

AU - Edwards, M. J.

AU - Mir, P.

AU - DiGiorgio, A.

AU - Salvi, S.

AU - Davis, M.

AU - Russo, N.

AU - Bozi, M.

AU - Kim, H. T.

AU - Pennisi, G.

AU - Quinn, N.

AU - Dallapiccola, B.

AU - Bhatia, Kailash P.

PY - 2005/2/22

Y1 - 2005/2/22

N2 - 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.

AB - 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.

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M3 - Article

C2 - 15728306

AN - SCOPUS:13844306505

VL - 64

SP - 737

EP - 739

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 4

ER -

The epsilon-sarcoglycan gene in myoclonic syndromes

Abstract

ASJC Scopus subject areas

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