Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31
1999; Wiley; Volume: 46; Issue: 5 Linguagem: Inglês
10.1002/1531-8249(199911)46
ISSN1531-8249
AutoresTorbjoern G. Nygaard, Deborah Raymond, Caiping Chen, Ichizo Nishino, Paul Greene, Danna Jennings, Gary A. Heiman, Christine Klein, Rachel J. Saunders-Pullman, Patricia Kramer, Laurie J. Ozelius, Susan Bressman,
Tópico(s)Genetic Neurodegenerative Diseases
ResumoEssential 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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