Article
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.
American journal of human genetics - 9 Jul 2010
Riley Lisa G, Cooper Sandra, Hickey Peter, Rudinger-Thirion Joëlle, McKenzie Matthew, Compton Alison, Lim Sze Chern, Thorburn David, Ryan Michael T, Giegé Richard, Bahlo Melanie, Christodoulou John
Abstract excerpt
Mitochondrial respiratory chain disorders are a heterogeneous group of disorders in which the underlying genetic defect is often unknown. We have identified a pathogenic mutation (c.156C>G [p.F52L]) in YARS2, located at chromosome 12p11.21, by using genome-wide SNP-based homozygosity analysis of a family with affected members displaying myopathy, lactic acidosis, and sideroblastic anemia (MLASA). We subsequently...
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