Article
Myoclonus-dystonia: significance of large SGCE deletions.
Human mutation - 1 Feb 2008
Grünewald A, Djarmati A, Lohmann-Hedrich K, Farrell K, Zeller J A, Allert N, Papengut F, Petersen B, Fung V, Sue C M, O'Sullivan D, Mahant N, Kupsch A, Chuang R S, Wiegers K, Pawlack H, Hagenah J, Ozelius L J, Stephani U, Schuit R, Lang A E, Volkmann J, Münchau A, Klein C
Abstract excerpt
Myoclonus-dystonia (M-D) is an autosomal-dominant movement disorder caused by mutations in SGCE. We investigated the frequency and type of SGCE mutations with emphasis on gene dosage alterations and explored the associated phenotypes. We tested 35 M-D index patients by multiplex ligation-dependent probe amplification (MLPA) and genomic sequencing. Mutations were found in 26% (9/35) of the cases, all but three...
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