myopathy, lactic acidosis, and sideroblastic anemia 3 (DOID:0111184)
Alliance: disease page
Synonyms: MLASA3
Alt IDs: OMIM:500011
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.