Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31

• Published in: Annals of neurology Vol. 46; no. 5; pp. 794 - 798
• Main Authors: Nygaard, Torbjoern G., Raymond, Deborah, Chen, Caiping, Nishino, Ichizo, Greene, Paul E., Jennings, Danna, Heiman, Gary A., Klein, Christine, Saunders-Pullman, Rachel J., Kramer, Patricia, Ozelius, Laurie J., Bressman, Susan B.
• Format: Journal Article
• Language: English
• Published: New York John Wiley & Sons, Inc 01.11.1999; Willey-Liss
• Subjects: Adolescent; Adult; Age of Onset; Aged; Biological and medical sciences; Cell Line; Chromosome Mapping; Chromosomes, Human, Pair 11; Chromosomes, Human, Pair 17; DNA - blood; Dystonia - genetics; Female; Genetic Linkage; Genetic Markers; Genotype; Humans; Male; Medical sciences; Middle Aged; Myoclonus - genetics; Nervous system (semeiology, syndromes); Nervous system as a whole; Neurology; Pedigree; Human; Nervous system diseases; Linkage; Myoclonus; Family study; Exploration; Chromosome C7; Involuntary movement; Genetic disease; Striated muscle disease; Genetics; Dystonia; Neurological disorder; Extrapyramidal syndrome
• ISSN: 0364-5134; 1531-8249
• DOI: 10.1002/1531-8249(199911)46:5<794::AID-ANA19>3.0.CO;2-2

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.