Mitochondrial translation release factor in rescue deficiency

(MTRFR deficiency)

Synonym(s)
- Combined oxidative phosphorylation deficiency type 7,
- autosomal recessive spastic paraplegia type 55
Type

Disease
External link(s)
- IEMbase
Gene
- MTRFR / Methylenetetrahydrofolate Reductase
  12q24.31
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Methylenetetrahydrofolate reductase
Disease group(s)
- 10.3.2 Disorders of mitoribosome modification and assembly