Christodoulou J

ORCID: 0000-0002-8431-0641 · 1 paper in corpus

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

BackgroundMutations 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 Anaemia …