A novel locus for inherited myoclonus-dystonia on 18p11

@article{Grimes2002ANL,
  title={A novel locus for inherited myoclonus-dystonia on 18p11},
  author={David A. Grimes and Fabin Han and Anthony E. Lang and P St George-Hyssop and Lemuel J. Racacho and Dennis E. Bulman},
  journal={Neurology},
  year={2002},
  volume={59},
  pages={1183-1186}
}
Objective Inherited myoclonus-dystonia (IMD) is a new term for an autosomal dominant disorder characterized by myoclonus and dystonia. Recently, IMD was linked to a region on chromosome 11q23 with two different mutations identified in the D2 dopamine receptor gene and linked to chromosome 7q with five different loss-of-function mutations identified in the &egr;-sarcoglycan gene. Methods These two regions and genes were excluded in a large Canadian family with IMD in whom 13 individuals are… Expand
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  • 2008
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Two novel large multiexonic deletions of SGCE are identified and analysis of the region surrounding the deletions demonstrates that both deletions are the result of nonhomologous recombination with homologous end joining. Expand
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