A major locus for several phenotypes of myoclonus–dystonia on chromosome 7q

@article{Vidailhet2001AML,
  title={A major locus for several phenotypes of myoclonus–dystonia on chromosome 7q},
  author={Marie Vidailhet and Johann Tassin and Frank Durif and Annie Nivelon-Chevallier and Yves Agid and Alexis Brice and Alexandra D{\"u}rr},
  journal={Neurology},
  year={2001},
  volume={56},
  pages={1213 - 1216}
}
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… Expand
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