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