Conditions / Genetic
mitochondrial complex IV deficiency nuclear type 1
info · Genetic
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2.
Signs and symptoms
- Hypotonia
- Ataxia
- Generalized hypotonia
- Failure to thrive
- Respiratory failure
- Ophthalmoparesis
- Cytochrome C oxidase-negative muscle fibers
- Brisk reflexes
- Lactic acidosis
- Truncal ataxia
Also known as: MC4DN1