Large deletions account for an increasin
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Fabin Han; Lemuel Racacho; Howard Yang; Tara Read; Oksana Suchowersky; Anthony E
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Article
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2008
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John Wiley and Sons
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English
β 170 KB
## Abstract Myoclonusβdystonia (MβD) (MIM 159900) is a rare βdystonia plusβ syndrome, characterized by rapid myoclonic jerks, predominantly in the neck and upper limbs, in combination with dystonia. Mutations in the gene Ξ΅βsarcoglycan (__SGCE__) are known to be responsible for approximately oneβthi