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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease progressive myoclonus epilepsy
Comorbidity C0178664|glomerulosclerosis
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PubMedID- 21738487 Limp-2 deficiency causes the autosomal-recessive disorder action myoclonus-renal failure syndrome (amrf), which combines renal glomerulosclerosis with progressive myoclonus epilepsy associated with storage material in the brain [34].

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