Conditions / Genetic
mitochondrial complex IV deficiency nuclear type 2
info · Genetic
A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13.
Signs and symptoms
- Encephalopathy
- Peripheral axonal neuropathy
- Hearing impairment
- Strabismus
- Abnormal brainstem MRI signal intensity
- Vocal cord paralysis
- Diffuse white matter abnormalities
- Muscle weakness
- Mixed demyelinating and axonal polyneuropathy
- Tachypnea
Also known as: MC4DN2; fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1