1.10.a
Disorders of mitochondrial transcript processing and modification
- Mitochondrial RNA polymerase deficiency
- Mitochondrial RNA import protein deficiency (Combined oxidative phosphorylation deficiency type 13)
- Mitochondrial transcription factor A deficiency
- Ribonuclease P 5′ tRNA processing enzyme deficiency (Combined oxidative phosphorylation deficiency 3)
- HSD10 disease (2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency)
- RNase P catalytic subunit deficiency
- Ribonuclease Z 3′ tRNA processing enzyme deficiency (Combined oxidative phosphorylation deficiency 17)
- Mitochondrial poly(A) polymerase deficiency
- Mitochondrial poly(A) exoribonuclease deficiency
- CCA-adding tRNA-nucleotidyltransferase deficiency (Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, severe; retinitis pigmentosa and erythrocytic microcytosis, milder)
- Mitochondrial methionyl-tRNA formyltransferase deficiency (Combined oxidative phosphorylation deficiency type 15)
- Mitochondrial methionyl-tRNA methyltransferase deficiency
- tRNA 5-taurinomethyluridine modifier deficiency (Combined oxidative phosphorylation deficiency type 23)
- tRNA 5-carboxymethylaminomethyl transferase deficiency (Combined oxidative phosphorylation deficiency type 1)
- Pseudouridine synthase 1 deficiency (Myopathy, lactic acidosis, and sideroblastic anemia type 1)
- tRNA isopentenyl transferase deficiency
- tRNA methyltransferase 5 deficiency (Combined oxidative phosphorylation deficiency type 26)
- tRNA 5-methylaminomethyl-2-thiouridylate-methyltransferase deficiency (Transient infantile liver failure)
- tRNA-His guanylyltransferase 1 like deficiency
