Action myoclonus renal failure syndrome (AMRF) is a rare form of progressive myoclonic epilepsy (PME) associated with severe renal failure. AMRF is an autosomal recessive (AR) disease manifested by the development of neurologic and/or renal symptoms in the 2nd and 3rd decades. The disease occurs due to mutations in SCARB2, which encodes the lysosomal integral membrane type 2 (LIMP-2) protein [1].
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