myopathy, lactic acidosis, and sideroblastic anemia 2

A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21.

Signs and symptoms

• Sideroblastic anemia
• Cytochrome C oxidase-negative muscle fibers
• Lactic acidosis
• Ragged-red muscle fibers
• Decreased activity of mitochondrial complex III
• Increased circulating lactate concentration
• Decreased activity of mitochondrial complex I
• Decreased activity of mitochondrial complex IV
• Lethargy
• Muscle weakness

Also known as: MLASA2