Conditions / Genetic
mitochondrial complex IV deficiency nuclear type 18
info · Genetic
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX6A2 gene on chromosome 16p11.2.
Signs and symptoms
- Increased circulating pyruvate concentration
- Increased circulating lactate concentration
- Generalized hypotonia
- Weakness of facial musculature
- Increased intramyocellular lipid droplets
- Decreased activity of mitochondrial complex IV
- High palate
- Muscle weakness
- Cytochrome C oxidase-negative muscle fibers
- Neonatal respiratory distress
Also known as: MC4DN18