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Article

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2.

Journal of human genetics - 1 Apr 2014

Nakajima Junya, Eminoglu Tuba F, Vatansever Goksel, Nakashima Mitsuko, Tsurusaki Yoshinori, Saitsu Hirotomo, Kawashima Hisashi, Matsumoto Naomichi, Miyake Noriko

Abstract excerpt

Mitochondrial diseases are associated with defects of adenosine triphosphate production and energy supply to organs as a result of dysfunctions of the mitochondrial respiratory chain. Biallelic mutations in the YARS2 gene encoding mitochondrial tyrosyl-tRNA synthetase cause myopathy, lactic acidosis, and sideroblastic anemia 2 (MLASA2), a type of mitochondrial disease. Here, we report a consanguineous Turkish...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24430573
DOI: 10.1038/jhg.2013.143

Genes

YARS2

Variants

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A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2.PMID 24430573Read ↗

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.Semantic proximity Read ↗

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia.Semantic proximity Read ↗

A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.Semantic proximity Read ↗

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A novel tRNASer(AGY) 12244G > a variant impairs mitochondrial function and presents with classical MELAS phenotype.Semantic proximity Read ↗

A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.Semantic proximity Read ↗

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.Semantic proximity Read ↗

Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene.Semantic proximity Read ↗

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.Semantic proximity Read ↗

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Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.Semantic proximity Read ↗

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