Milder Syndrome Caused by Mutations in the Mitochondrial Targeted Tyrosyl-tRNA Synthetase Gene

Abstract

Mitochondrial targeted tyrosyl-tRNA synthetase ( YARS2 ) mutations cause an autosomal recessive disorder that typically presents in childhood, most often with myopathy. Researchers have now summarized salient clinical findings in a series of cases and characterize the underlying molecular defects in these patients through biochemical testing, tissue analysis, and modeling in yeast. Using a combination of next-generation sequencing …