myopathy, lactic acidosis, and sideroblastic anemia 3

Term ID

DOID:0111184

Synonyms

• MLASA3

Definition

A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome. https://www.ncbi.nlm.nih.gov/pubmed/25037980

References

• OMIM:500011

Ontology

Human Disease   ( DOID:0111184 )