Conditions / Genetic
mitochondrial complex IV deficiency nuclear type 3
info · Genetic
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX10 gene on chromosome 17p12.
Signs and symptoms
- Ataxia
- Generalized hypotonia
- Failure to thrive
- Nystagmus
- Reduced eye contact
- Focal T2 hyperintense thalamic lesion
- Agitation
- Muscle weakness
- Cytochrome C oxidase-negative muscle fibers
- Metabolic acidosis
Also known as: MC4DN3