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1 Possible Causes for Vacuolization in Distal and Collecting Tubules

  • Action Myoclonus - Renal Failure Syndrome

    Abstract Action myoclonus-renal failure syndrome (AMRF) is an autosomal recessive progressive myoclonus epilepsy (PME) associated with renal dysfunction that appears in the second or third decade of life and that is caused by loss-of-function mutations in the SCARB2 gene encoding lysosomal integral membrane[…][]

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