Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia-MLASA Syndrome
Lisa G Riley, Sandra Cooper, Peter Hickey, Joelle Rudinger-Thirion, Matthew McKenzie, Alison Compton, Sze Chern Lim, David Thorburn, Michael T Ryan, Richard Giege, Melanie Bahlo, John Christodoulou
American Journal of Human Genetics | CELL PRESS | Published : 2010
Thanks to N. Fischel-Ghodsian for PUS1 mutation screening, L. Bonnefond for preparation of Figure 4, S. Taplin for assistance in the generation of Figure Si, L. Waddell for cutting muscle sections, and M. Menezes for preliminary haplotype analysis. This work was supported by a grant from the March of Dimes Foundation. D.T. is supported by an Australian National Health and Medical Research Council Principal Research Fellowship. M.B. is supported by an Australian National Health and Medical Research Council Career Development Award.