A major locus for several phenotypes of myoclonus--dystonia on chromosome 7q.
Myoclonus--dystonia is a genetically heterogeneous autosomal dominant disorder caused by a mutation in the D2 dopamine receptor on chromosome 11 and a locus on chromosome 7q21-q31. The authors tested linkage to the chromosome 7q candidate region in four families with either myoclonic dystonia (n = 3) or essential myoclonus (n = 1). Age at onset ranged from 0.5 to 38 years. Only four patients from two families had a positive response to alcohol. Lod scores were positive in all four families, suggesting that chromosome 7q21-q31 is a major locus for myoclonus-dystonia with several phenotypes.
Vidailhet
M
M
INSERM U289, Hôpital de la Salpêtrière, Paris, France.
Tassin
J
J
Durif
F
F
Nivelon-Chevallier
A
A
Agid
Y
Y
Brice
A
A
Dürr
A
A
D000328:Adult; D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D004421:Dystonia / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009207:Myoclonus / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype