Article
Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.
Movement disorders : official journal of the Movement Disorder Society - 1 Jun 2013
Carecchio Miryam, Magliozzi Monia, Copetti Massimiliano, Ferraris Alessandro, Bernardini Laura, Bonetti Monica, Defazio Giovanni, Edwards Mark J, Torrente Isabella, Pellegrini Fabio, Comi Cristoforo, Bhatia Kailash P, Valente Enza Maria
Abstract excerpt
Mutations or exon deletions of the epsilon-sarcoglycan (SGCE) gene cause myoclonus-dystonia (M-D), but a subset of M-D patients are mutation-negative and the sensitivity and specificity of current genetic testing criteria are unknown. We screened 46 newly enrolled M-D patients for SGCE mutations and deletions; moreover, 24 subjects previously testing negative for SGCE mutations underwent gene dosage analysis. In...
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