OnlineIMD

10.1    Disorders of mitochondrial transcript processing and modification

  • Type
    Group
  • Disease group(s)
    • 10    Disorders of mitochondrial gene expression
  • Child entries
    • Mitochondrial RNA polymerase deficiency
    • Mitochondrial RNA import protein deficiency
    • Mitochondrial transcription factor A deficiency
    • Ribonuclease P 5' tRNA processing enzyme deficiency
    • HSD10 disease
    • RNase P catalytic subunit deficiency
    • Ribonuclease Z 3' tRNA processing enzyme deficiency
    • Mitochondrial poly(A) polymerase deficiency
    • Mitochondrial poly(A) exoribonuclease deficiency
    • CCA-adding tRNA-nucleotidyltransferase deficiency
    • Mitochondrial methionyl-tRNA formyltransferase deficiency
    • Mitochondrial methionyl-tRNA methyltransferase deficiency
    • tRNA 5-taurinomethyluridine modifier deficiency
    • tRNA 5-carboxymethylaminomethyl transferase deficiency
    • Pseudouridine synthase 1 deficiency
    • tRNA isopentenyl transferase deficiency
    • tRNA methyltransferase 5 deficiency
    • tRNA 5-methylaminomethyl-2-thiouridylate-methyltransferase deficiency
    • tRNA-His guanylyltransferase 1 like deficiency