Article
Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion.
Nature genetics - 1 Jun 1994
Kingsmore S F, Giros B, Suh D, Bieniarz M, Caron M G, Seldin M F
Abstract excerpt
Congenital myoclonus is a widespread neurologic disorder characterized by hyperexcitability, muscular spasticity and myoclonus associated with marked reduction in neural glycine binding sites. The recessive mouse mutation spastic (spa) is a prototype of inherited myoclonus. Here we show that defects in the gene encoding the beta-subunit of the glycine receptor (Glrb) underlie spa: Glrb maps to the same region of...
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