Described in 2005 by Bonnefond, L. et al, IARS2 (OMIM 612801) is a mitochondrial isoleucyl-tRNA synthetase encoded the nucleus. Phenotypically, mutation expressed broad clinical spectrum, which includes Leigh Syndrome (LS) as well extra-neurological effects. We described 7-year-old boy who presented global developmental delay, hypotonia and epilepsy, evolving with epileptic encephalopathy. An M...
