• Bergmann AK, Campagna DR, McLoughlin EM, Agarwal S, Fleming MD, Bottomley SS, Neufeld EJ. 2010. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. Pediatr Blood Cancer 54:273278.
  • Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N. 2004. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). Am J Hum Genet 74:13031308.
  • Fleming MD. 2011. Congenital sideroblastic anemias: Iron and heme lost in mitochondrial translation. Hematology Am Soc Hematol Educ Program 2011:525531.
  • Konovalova S, Tyynismaa H. 2013. Mitochondrial aminoacyl-tRNA synthetases in human disease. Mol Genet Metab 108:206211.
  • McShane MA, Hammans SR, Sweeney M, Holt IJ, Beattie TJ, Brett EM, Harding AE. 1991. Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. Am J Hum Genet 48:3942.
  • Patton JR, Bykhovskaya Y, Mengesha E, Bertolotto C, Fischel-Ghodsian N. 2005. Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation. J Biol Chem 280:1982319828.
  • Pitceathly RD, Rahman S, Hanna MG. 2012. Single deletions in mitochondrial DNA–molecular mechanisms and disease phenotypes in clinical practice. Neuromuscul Disord 22:577586.
  • Pulkes T, Siddiqui A, Morgan-Hughes JA, Hanna MG. 2000. A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance. Neurology 55:12101212.
  • Rahman S, Leonard JV. 2000. Early onset of complete heart block in Pearson syndrome. J Inherit Metab Dis 23:753754.
  • Rahman S, Thorburn DR. 2013. 189th ENMC International workshop Complex I deficiency: Diagnosis and treatment 20–22 April 2012, Naarden, The Netherlands. Neuromuscul Disord 23:506515.
  • Riley LG, Cooper S, Hickey P, Rudinger-Thirion J, Mckenzie M, Compton A, Lim SC, Thorburn D, Ryan MT, Giege R, Bahlo M, Christodoulou J. 2010. Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia–MLASA syndrome. Am J Hum Genet 87:5259.
  • Rotig A. 2011. Human diseases with impaired mitochondrial protein synthesis. Biochim Biophys Acta 1807:11981205.
  • Rotig A, Bourgeron T, Chretien D, Rustin P, Munnich A. 1995. Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum Mol Genet 4:13271330.
  • Sasarman F, Karpati G, Shoubridge EA. 2002. Nuclear genetic control of mitochondrial translation in skeletal muscle revealed in patients with mitochondrial myopathy. Hum Mol Genet 11:16691681.
  • Sasarman F, Nishimura T, Thiffault I, Shoubridge EA. 2012. A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia. Hum Mutat 33:12011206.
  • Scaglia F, Vogel H, Hawkins EP, Vladutiu GD, Liu LL, Wong LJ. 2003. Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis. Am J Med Genet Part A 123A:172178.
  • Suzuki T, Nagao A, Suzuki T. 2011. Human mitochondrial tRNAs: Biogenesis, function, structural aspects, and diseases. Annu Rev Genet 45:299329.