Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31.
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.
Nygaard
T G
TG
Department of Neurology, East Orange Veteran's Administration Medical Center, NJ, USA.
Raymond
D
D
Chen
C
C
Nishino
I
I
Greene
P E
PE
Jennings
D
D
Heiman
G A
GA
Klein
C
C
Saunders-Pullman
R J
RJ
Kramer
P
P
Ozelius
L J
LJ
Bressman
S B
SB
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D002460:Cell Line; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D002886:Chromosomes, Human, Pair 17; D004247:DNA / Q000097:blood; D004421:Dystonia / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009207:Myoclonus / Q000235:genetics*; D010375:Pedigree
D005819:Genetic Markers; D004247:DNA