Article
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
American journal of human genetics - 1 Mar 2008
Berkovic Samuel F, Dibbens Leanne M, Oshlack Alicia, Silver Jeremy D, Katerelos Marina, Vears Danya F, Lüllmann-Rauch Renate, Blanz Judith, Zhang Ke Wei, Stankovich Jim, Kalnins Renate M, Dowling John P, Andermann Eva, Andermann Frederick, Faldini Enrico, D'Hooge Rudi, Vadlamudi Lata, Macdonell Richard A, Hodgson Bree L, Bayly Marta A, Savige Judy, Mulley John C, Smyth Gordon K, Power David A, Saftig Paul, Bahlo Melanie
Abstract excerpt
Action myoclonus-renal failure syndrome (AMRF) is an autosomal-recessive disorder with the remarkable combination of focal glomerulosclerosis, frequently with glomerular collapse, and progressive myoclonus epilepsy associated with storage material in the brain. Here, we employed a novel combination of molecular strategies to find the responsible gene and show its effects in an animal model. Utilizing only three...
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