Rotig A

ORCID: 0000-0003-0589-0703 · 1 paper in corpus
other 2013
Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia
Orphanet journal of rare diseases ·doi:10.1186/1750-1172-8-193

BACKGROUND: Mutations in the mitochondrial tyrosyl-tRNA synthetase (YARS2) gene have previously been identified as a cause of the tissue specific mitochondrial respiratory chain (RC) disorder, Myopathy, Lactic Acidosis, Sideroblastic Anaemi…