Myoclonus–dystonia syndrome with severe
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Anjum Misbahuddin; Mark Placzek; Graham Lennox; Jan-Willem Taanman; Thomas T. Wa
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Article
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2007
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John Wiley and Sons
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English
⚖ 90 KB
## Abstract We describe two affected individuals in a family with myoclonus–dystonia syndrome complicated with severe depression. One individual committed suicide. Molecular genetic analysis revealed a heterozygous point mutation in the ε‐sarcoglycan gene, which we show leads to skipping of exon 5.