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Article

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

Haematologica - 1 Dec 2018

Smith Frances, Hopton Sila, Dallabona Cristina, Gilberti Micol, Falkous Gavin, Norwood Fiona, Donnini Claudia, Gorman Gráinne S, Clark Barnaby, Taylor Robert W, Kulasekararaj Austin G

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Share to Amino Acid Sequence
Share to Anemia, Sideroblastic
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Muscular Diseases

Share to Mutation, Missense

Share to Sequence Homology, Amino Acid

Share to Tyrosine-tRNA Ligase

Source

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Identifiers

PMID: 29976739
DOI: 10.3324/haematol.2018.194464
PMCID: PMC6269300

Genes

YARS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene.PMID 29976739Read ↗

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

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

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