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Analysis of the ϵ-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity

✍ Scribed by Enza-Maria Valente; Anjum Misbahuddin; Francesco Brancati; Mark R. Placzek; Barbara Garavaglia; Sergio Salvi; Andrea Nemeth; Charles Shaw-Smith; Nardo Nardocci; Anna-Rita Bentivoglio; Alfredo Berardelli; Roberto Eleopra; Bruno Dallapiccola; Thomas T. Warner

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 315 KB
Volume: 18
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.10476

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✦ Synopsis

Abstract

The ϵ‐sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus–dystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with autosomal dominant myoclonus–dystonia. To evaluate the relevance of SGCE in myoclonus–dystonia, we sequenced the entire coding region of the ϵ‐sarcoglycan gene in 16 patients with either sporadic or familial myoclonus–dystonia. No mutations were found. This study suggests that ϵ‐sarcoglycan does not play an important role in sporadic myoclonus–dystonia and supports genetic heterogeneity in familial cases. © 2003 Movement Disorder Society

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