Mutations in the α1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

@article{Shiang1993MutationsIT,
  title={Mutations in the α1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia},
  author={Rita Shiang and Stephen G. Ryan and Ya-zhen Zhu and Angelika F G Hahn and P. O'Connell and John Jacob Wasmuth},
  journal={Nature Genetics},
  year={1993},
  volume={5},
  pages={351-358}
}
Hereditary hyperekplexia, or familial startle disease (STHE), is an autosomal dominant neurologic disorder characterized by marked muscle rigidity of central nervous system origin and an exaggerated startle response to unexpected acoustic or tactile stimuli. Linkage analyses in several large families provided evidence for locus homogeneity and showed the disease gene was linked to DNA markers on the long arm of chromosome 5. Here we describe the identification of point mutations in the gene… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 123 extracted citations

Similar Papers

Loading similar papers…