Aminoacyl-tRNA synthetase deficiencies in search of common themes.

Affiliation

Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, Utrecht, 3584 EA, The Netherlands. [Email]

Abstract

Pathogenic variations in genes encoding aminoacyl-tRNA synthetases (ARSs) are increasingly associated with human disease. Clinical features of autosomal recessive ARS deficiencies appear very diverse and without apparent logic. We searched for common clinical patterns to improve disease recognition, insight into pathophysiology, and clinical care.

Keywords

Aminoacyl-tRNA synthetase deficiency,Clinical phenotype,Cytosolic translation,