The epsilon-sarcoglycan gene (SGCE), mut
The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted
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Grabowski, Monika; Zimprich, Alexander; Lorenz-Depiereux, Bettina; Kalscheuer, V
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Article
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2003
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Nature Publishing Group
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English
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Myoclonus-dystonia syndrome (MDS) is a non-degenerative neurological disorder that has been described to be inherited in an autosomal dominant mode with incomplete penetrance. MDS is caused by loss of function mutations in the epsilon-sarcoglycan gene. Reinvestigation of MDS pedigrees provided evide