A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis and sideroblastic anemia 2 (Q59697623)

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5 March 2020

title

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2 (English)

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myopathy, lactic acidosis, and sideroblastic anemia

5 March 2020

main subject

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5 March 2020

Hirotomo Saitsu

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5 March 2020

author name string

Junya Nakajima

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5 March 2020

Tuba F Eminoglu

2

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Goksel Vatansever

3

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Mitsuko Nakashima

4

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Hisashi Kawashima

7

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Naomichi Matsumoto

8

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Noriko Miyake

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publication date

16 January 2014

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Journal of Human Genetics

5 March 2020

published in

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volume

59

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issue

4

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page(s)

229-232

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Structure and dynamics of the anticodon arm binding domain of Bacillus stearothermophilus Tyrosyl-tRNA synthetase

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cites work

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12 December 2020

Mitochondrial respiratory-chain diseases

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12 December 2020

HomozygosityMapper--an interactive approach to homozygosity mapping

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12 December 2020

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

1 reference

12 December 2020

The role of aminoacyl-tRNA synthetases in genetic diseases

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12 December 2020

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

1 reference

12 December 2020

Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome

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12 December 2020

Recent advances in the genetics of mitochondrial encephalopathies

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12 December 2020

Diagnostic criteria for respiratory chain disorders in adults and children.

1 reference

12 December 2020

MutationTaster evaluates disease-causing potential of sequence alterations

1 reference

12 December 2020

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

1 reference

12 December 2020

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

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12 December 2020

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

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12 December 2020

A method and server for predicting damaging missense mutations

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12 December 2020

Class I tyrosyl-tRNA synthetase has a class II mode of cognate tRNA recognition

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12 December 2020

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

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12 December 2020

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

1 reference

12 December 2020

Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS

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12 December 2020

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia

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12 December 2020

Amino acid difference formula to help explain protein evolution

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12 December 2020

Identifiers

DOI

10.1038/JHG.2013.143

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5 March 2020

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