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Ann Neurol. 1999 Nov;46(5):794-8.

Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31.

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  • 1Department of Neurology, East Orange Veteran's Administration Medical Center, NJ, USA.


Essential myoclonus-dystonia is a neurological condition characterized by myoclonic and dystonic muscle contractions and the absence of other neurological signs or laboratory abnormalities; it is often responsive to alcohol. The disorder may be familial with apparent autosomal dominant inheritance. We report a large kindred with essential familial myoclonus-dystonia and map a locus for the disorder to a 28-cM region of chromosome 7q21-q31.

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