Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22.

  title={Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22.},
  author={A E Lehesjoki and Marjaleena Koskiniemi and Pertti Sistonen and Jinmin Miao and Johanna R. H{\"a}stbacka and Reijo Norio and Albert de la Chapelle},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  volume={88 9},
Progressive myoclonus epilepsy of Univerricht-Lundborg type is a clinically defined entity among the progressive myoclonus epilepsies. It is an autosomal recessive disorder. The underlying biochemical defect is unknown. We used linkage analysis to localize the gene in 12 families with the aid of polymorphic DNA markers. Close linkage was detected with three markers on distal chromosome 21. The loci BCEI and D21S154 gave the highest positive logarithm-of-odds (lod) scores of 5.49 and 4.25… CONTINUE READING
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