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Localization of a gene for myoclonus‐dystonia to chromosome 7q21‐q31
Author(s) -
Nygaard Torbjoern G.,
Raymond Deborah,
Chen Caiping,
Nishino Ichizo,
Greene Paul E.,
Jennings Danna,
Heiman Gary A.,
Klein Christine,
SaundersPullman Rachel J.,
Kramer Patricia,
Ozelius Laurie J.,
Bressman Susan B.
Publication year - 1999
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(199911)46:5<794::aid-ana19>3.0.co;2-2
Subject(s) - dystonia , myoclonus , locus (genetics) , neurological disorder , medicine , chromosome , genetics , neuroscience , psychology , biology , gene , central nervous system disease
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.