Contributions: R.S. performed the genetic analysis and co-wrote the manuscript; Y.W. collated clinical data and co-wrote the manuscript; M.A.C., K.L. and K.S. provided clinical data; and S.R. diagnosed the patient, supervised genetic analysis and co-wrote the manuscript.
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations
Version of Record online: 5 AUG 2013
© 2013 The Authors. American Journal of Medical Genetics Part A</i> Published Wiley Periodicals, Inc.
This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
American Journal of Medical Genetics Part A
Volume 161, Issue 9, pages 2334–2338, September 2013
How to Cite
2013. A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations. Am J Med Genet Part A 161A:2334–2338., , , , , .
- Issue online: 14 AUG 2013
- Version of Record online: 5 AUG 2013
- Manuscript Accepted: 2 MAY 2013
- Manuscript Received: 19 MAR 2013
- Great Ormond Street Hospital Children's Charity
- Wellcome Trust Research Training Fellowship
- 2010. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. Pediatr Blood Cancer 54:273–278. , , , , , , .
- 2004. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). Am J Hum Genet 74:1303–1308. , , , , .
- 2011. Congenital sideroblastic anemias: Iron and heme lost in mitochondrial translation. Hematology Am Soc Hematol Educ Program 2011:525–531. .
- 2013. Mitochondrial aminoacyl-tRNA synthetases in human disease. Mol Genet Metab 108:206–211. , .
- 1991. Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. Am J Hum Genet 48:39–42. , , , , , , .
- 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 280:19823–19828. , , , , .
- 2012. Single deletions in mitochondrial DNA–molecular mechanisms and disease phenotypes in clinical practice. Neuromuscul Disord 22:577–586. , , .
- 2000. A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance. Neurology 55:1210–1212. , , , .
- 2000. Early onset of complete heart block in Pearson syndrome. J Inherit Metab Dis 23:753–754. , .
- 2013. 189th ENMC International workshop Complex I deficiency: Diagnosis and treatment 20–22 April 2012, Naarden, The Netherlands. Neuromuscul Disord 23:506–515. , .
- 2010. Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia–MLASA syndrome. Am J Hum Genet 87:52–59. , , , , , , , , , , , .
- 2011. Human diseases with impaired mitochondrial protein synthesis. Biochim Biophys Acta 1807:1198–1205. .
- 1995. Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum Mol Genet 4:1327–1330. , , , , .
- 2002. Nuclear genetic control of mitochondrial translation in skeletal muscle revealed in patients with mitochondrial myopathy. Hum Mol Genet 11:1669–1681. , , .
- 2012. A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia. Hum Mutat 33:1201–1206. , , , .
- 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:172–178. , , , , , .
- 2011. Human mitochondrial tRNAs: Biogenesis, function, structural aspects, and diseases. Annu Rev Genet 45:299–329. , , .