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Analysis of the ε-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity 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 is a Medicine article available to read on EtoBox.

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## 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

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

Author

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; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley (ISSN 0885-3185)

Published

2003

Language

EN

Field

Medicine (Health Sciences)