@article{2d0f5df3bfa5443e97d97b7a2937521d,
title = "A major locus for myoclonus-dystonia maps to chromosome 7q in eight families",
abstract = "Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. The dopamine D2 receptor gene (DRD2) on chromosome 11q has been implicated in one family with this syndrome, and linkage to a 28-cM region on 7q has been reported in another. We performed genetic studies, using eight additional families with M-D, to assess these two loci. No evidence for linkage was found for 11q markers. However, all eight of these families showed linkage to chromosome 7 markers, with a combined multipoint LOD score of 11.71. Recombination events in the families define the disease gene within a 14-cM interval flanked by D7S2212 and D7S821. These data provide evidence for a major locus for M-D on chromosome 7q21.",
author = "Christine Klein and Karla Schilling and Saunders-Pullman, {Rachel J.} and Jennifer Garrels and Breakefield, {Xandra O.} and Brin, {Mitchell F.} and Deborah DeLeon and Dana Doheny and Stanley Fahn and Fink, {J. Stephen} and Lars Forsgren and Jennifer Friedman and Steven Frucht and Juliette Harris and Gosta Holmgren and Bernhard Kis and Roger Kurlan and Martin Kyllerman and Lang, {Anthony E.} and Joanne Leung and Deborah Raymond and Robishaw, {Janet D.} and Gunnar Sanner and Eberhard Schwinger and Tabamo, {Rowena E.} and Michele Tagliati and Peter Vieregge and Jan Wahlstrom and Wendt, {Kristin J.} and Kramer, {Patricia L.} and Bressman, {Susan B.} and Ozelius, {Laurie J.}",
note = "Funding Information: We thank all the patients and family members who participated in these studies for providing samples and inspiration. This work was supported by funds from the Myoclonus Research Foundation (to L.O. and S.F.), the Dystonia Medical Research Foundation (to L.O., X.O.B., S.B, R.S.P., D.dL., D.R., and P.K.), the Fritz Thyssen Stiftung (to C.K., B.K., and P.V.), the Deutsche Forschungsgemeinschaft (to C.K. and P.V.), and the Bachmann-Strauss Dystonia and Parkinson Foundation (to M.B. and D.D.) and by NIH grants NS28384 (to X.O.B.) and NS26656 (to S.B., L.O., P.K., R.S.P., and D.R.). ",
year = "2000",
doi = "10.1016/S0002-9297(07)62961-9",
language = "English (US)",
volume = "67",
pages = "1314--1319",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "5",
}