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Article

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

American journal of medical genetics. Part A - 1 Sept 2013

Shahni Rojeen, Wedatilake Yehani, Cleary Maureen A, Lindley Keith J, Sibson Keith R, Rahman Shamima

Abstract excerpt

Nuclear-encoded disorders of mitochondrial translation are clinically and genetically heterogeneous. Genetic causes include defects of mitochondrial aminoacyl-tRNA synthetases, and factors required for initiation, elongation and termination of protein synthesis as well as ribosome recycling. We report on a new case of myopathy, lactic acidosis and sideroblastic anemia (MLASA) syndrome caused by defective...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23918765
DOI: 10.1002/ajmg.a.36065
PMCID: PMC3884767

Genes

YARS2
PUS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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