Citations for
1MLASA2, YARS2
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.
Ardissone A, Lamantea E, Quartararo J, Dallabona C, Carrara F, Moroni I, Donnini C, Garavaglia B, Zeviani M, Uziel G.
JIMD Rep 20:95-101. doi: 10.1007/8904_2014_397. Epub 2015 Feb 1. 2015
2MLASA2, YARS2
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2.
Nakajima J, Eminoglu TF, Vatansever G, Nakashima M, Tsurusaki Y, Saitsu H, Kawashima H, Matsumoto N, Miyake N.
J Hum Genet 59(4):229-32. doi: 10.1038/jhg.2013.143. Epub 2014 Jan 16. 2014
3YARS2, mLASA2
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.
Shahni R, Wedatilake Y, Cleary MA, Lindley KJ, Sibson KR, Rahman S.
Am J Med Genet A 161A(9):2334-8. doi: 10.1002/ajmg.a.36065. Epub 2013 Aug 5. 2013
4MLASA2, YARS2
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia.
Sasarman F, Nishimura T, Thiffault I, Shoubridge EA.
Hum Mutat 33(8):1201-6. doi: 10.1002/humu.22098. Epub 2012 May 7. 2012
5MLASA2, YARS2
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.
Riley LG, Cooper S, Hickey P, Rudinger-Thirion J, McKenzie M, Compton A, Lim SC, Thorburn D, Ryan MT, Giegé R, Bahlo M, Christodoulou J.
Am J Hum Genet 87(1):52-9.PMID: 20598274 2010