A Major Locus for Myoclonus-Dystonia Maps to Chromosome 7q in Eight Families

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 7...

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Autori principali: Klein, Christine, Schilling, Karla, Saunders-Pullman, Rachel J., Garrels, Jennifer, Breakefield, Xandra O., Brin, Mitchell F., deLeon, Deborah, Doheny, Dana, Fahn, Stanley, Fink, J. Stephen, Forsgren, Lars, Friedman, Jennifer, Frucht, Steven, Harris, Juliette, Holmgren, Gosta, Kis, Bernhard, Kurlan, Roger, Kyllerman, Martin, Lang, Anthony E., Leung, Joanne, Raymond, Deborah, Robishaw, Janet D., Sanner, Gunnar, Schwinger, Eberhard, Tabamo, Rowena E., Tagliati, Michele, Vieregge, Peter, Wahlström, Jan, Wendt, Kristin J., Kramer, Patricia L., Bressman, Susan B., Ozelius, Laurie J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2000
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288573/
https://ncbi.nlm.nih.gov/pubmed/11022010
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