GARS
Definition: Aminoacyl-tRNA synthetase.
Pathology
germline mutations in
- axonal Charcot-Marie-Tooth disease type 2D (CMT2D) (MIM.601472)
- distal hereditary motor neuronopathy type 5 (HMN type V or HMN5) (MIM.600794)
See also
aminoacyl-tRNA synthetases