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A major locus for several phenotypes of myoclonus--dystonia on chromosome 7q.
INSERM U289, Hôpital de la Salpêtrière, Paris, France.
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.
PMID: 11342690 [PubMed - indexed for MEDLINE]
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Cited by 1 PubMed Central article
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Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia.
Müller B, Hedrich K, Kock N, Dragasevic N, Svetel M, Garrels J, Landt O, Nitschke M, Pramstaller PP, Reik W, et al.
Am J Hum Genet. 2002 Dec; 71(6):1303-11. Epub 2002 Nov 20.
[Am J Hum Genet. 2002]