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GTR Home > Conditions/Phenotypes > Myopathy, lactic acidosis, and sideroblastic anemia 2

Myopathy, lactic acidosis, and sideroblastic anemia 2

Summary

Myopathy, lactic acidosis, and sideroblastic anemia-2 (MLASA2) is an autosomal recessive disorder of the mitochondrial respiratory chain. The disorder shows marked phenotypic variability: some patients have a severe multisystem disorder from infancy, including cardiomyopathy and respiratory insufficiency resulting in early death, whereas others present in the second or third decade of life with sideroblastic anemia and mild muscle weakness (summary by Riley et al., 2013). For a discussion of genetic heterogeneity of MLASA, see MLASA1 (600462). [from OMIM]

Available tests

42 tests are in the database for this condition.

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Clinical tests (42 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CGI-04, MLASA2, MT-TYRRS, TYRRS, YARS2
    Summary: tyrosyl-tRNA synthetase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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