tRNA 5-carboxymethylaminomethyl transferase deficiency

Synonym(s)
- Combined oxidative phosphorylation deficiency type 1
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- MTO1 / MTO1, Mitochondrial Translation Optimization 1
  6q13
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Mitochondrial translation optimization 1 protein
Disease group(s)
- 10.1 Disorders of mitochondrial transcript processing and modification