Conditions / Musculoskeletal
myopathy, lactic acidosis, and sideroblastic anemia 1
info · Musculoskeletal
A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24.
Signs and symptoms
- Sideroblastic anemia
- Muscle weakness
- Cytochrome C oxidase-negative muscle fibers
- Ragged-red muscle fibers
- Decreased activity of mitochondrial complex I
- Decreased activity of mitochondrial complex IV
- Pallor
- Hypotonia
- Scapular winging
- Pigmentary retinopathy
Also known as: MLASA1