mitochondrial complex IV deficiency nuclear type 21

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the NDUFA4 gene on chromosome 7p21.3.

Signs and symptoms

• Delayed speech and language development
• Increased CSF lactate
• Increased intramyocellular lipid droplets
• Cytochrome C oxidase-negative muscle fibers
• Lactic acidosis
• Dystonia
• Spastic diplegia
• Failure to thrive in infancy
• Short stature
• Babinski sign

Also known as: MC4DN21