Article
A novel locus for inherited myoclonus-dystonia on 18p11.
Neurology - 22 Oct 2002
Grimes D A, Han F, Lang A E, St George-Hyssop P, Racacho L, Bulman D E
Abstract excerpt
OBJECTIVE: Inherited myoclonus-dystonia (IMD) is a new term for an autosomal dominant disorder characterized by myoclonus and dystonia. Recently, IMD was linked to a region on chromosome 11q23 with two different mutations identified in the D2 dopamine receptor gene and linked to chromosome 7q with five different loss-of-function mutations identified in the epsilon-sarcoglycan gene. METHODS: These two regions and...
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