Mitochondrial methionyl-tRNA synthetase deficiency

Synonym(s)
- Autosomal recessive spastic ataxia type 3
Type

Disease
External link(s)
- IEMbase
Gene
- MARS2 / Methionyl-tRNA Synthetase 2
  2q33.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Methionyl-tRNA synthetase 2, mitochondrial
Disease group(s)
- 10.2 Disorders of mitochondrial aminoacyl-tRNA synthetases