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GTR Home > Conditions/Phenotypes > Myopathy, lactic acidosis, and sideroblastic anemia 1

Myopathy, lactic acidosis, and sideroblastic anemia 1

Summary

Myopathy, lactic acidosis, and sideroblastic anemia (MLASA) is a rare autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow (Bykhovskaya et al., 2004). Genetic Heterogeneity of Myopathy, Lactic Acidosis, and Sideroblastic Anemia MLASA2 (613561) is caused by mutation in the YARS2 gene (610957) on chromosome 12p11. MLASA3 (500011) is caused by heteroplasmic mutation in the mitochondrially-encoded MTATP6 gene (516060). [from OMIM]

Available tests

44 tests are in the database for this condition.

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Clinical tests (44 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MLASA1, PUS1
    Summary: pseudouridine synthase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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