Kseniya Chmunevich

   Kseniya has secondary motor axonal polyneuropathy with pronounced flaccidity, mainly in the distal tetraparesis. Chronic renal failure in terminal stage, as an outcome of congenital nephrotic syndrome of the Finnish type. The condition after kidney transplantation. Chronic respiratory failure of 1-2 degrees. In order to exclude the presence of defects in the genes responsible for the synthesis of coenzyme Q10, the girl was recommended to perform full-exome sequencing with an eye to nephrological and neurological pathology. Kseniya was supported by «Chance» program.