Next, mutations in the scavenger receptor class B member 2 (SCARB2) gene, encoding LIMP2 protein, were found to cause action myoclonus-renal failure syndrome (AMRF) (MIM*602257), a fatal recessively inherited disorder characterized by glomerulosclerosis, progressive myoclonus epilepsy, ataxia, and accumulation of undefined storage material in the brain (17–23). This evidence concerns the gene SCARB2 and action myoclonus-renal failure syndrome.