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

Valente, EM; Misbahuddin, A; Brancati, F; Placzek, MR; Garavaglia, B; Salvi, S; Nemeth, A; ... Warner, TT; + view all (2003) Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity. MOVEMENT DISORD , 18 (9) 1047 - 1051. 10.1002/mds.10476.

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Abstract

The epsilon-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 epsilon-sarcoglycan gene in 16 patients with either sporadic or familial myoclonus-dystonia. No mutations were found. This study suggests that epsilon-sarcoglycan does not play an important role in sporadic myoclonus-dystonia and supports genetic heterogeneity in familial cases. (C) 2003 Movement Disorder Society.

Type: Article
Title: Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity
DOI: 10.1002/mds.10476
Keywords: myoclonus-dystonia syndrome, myoclonus, dystonia, epsilon-sarcoglycan, genetic heterogeneity, D2 DOPAMINE-RECEPTOR, CHROMOSOME 7Q, MAJOR LOCUS, ASSOCIATION, MUTATIONS, 7Q21-Q31, COMPLEX
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
URI: http://discovery.ucl.ac.uk/id/eprint/188414
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