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YouTubeJAMA Network
Movement Disorder Due to Action Myoclonus Renal Failure Syndrome (AMRFS)
A 22 year old women presented with a bilateral jerky tremor, stimulus-sensitive myoclonus, difficulty with tandem gait, and rapidly progressive renal failure with nephrotic-range proteinuria. Renal biopsy demonstrated focal segmental glomerulosclerosis (FSGS). Genetic testing for causes of FSGS revealed pathogenic variants in the SCARB2 gene ...
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