title: X-linked mental retardation with dystonic movements of the hands.
abstract: We describe a family with a syndrome of mental retardation, dystonic movements of the hands and dysarthria inherited in an X-linked recessive pattern. DNA marker studies gave a maximum lod score of 2.11 at theta of 0.00 for DXS41 with a likely localization of the gene to Xpter----Xp21.
authors.affiliation: Department of Medical Genetics, Prince of Wales Children's Hospital, Randwick, Sydney, New South Wales.
authors.forename: M W
authors.initials: MW
authors.lastname: Partington
authors.forename: J C
authors.initials: JC
authors.lastname: Mulley
authors.forename: G R
authors.initials: GR
authors.lastname: Sutherland
authors.forename: A
authors.initials: A
authors.lastname: Hockey
authors.forename: A
authors.initials: A
authors.lastname: Thode
authors.forename: G
authors.initials: G
authors.lastname: Turner
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015342:DNA Probes; D004421:Dystonia / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006225:Hand; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome
chemical_list: D015342:DNA Probes; D005819:Genetic Markers