Conditions / Genetic
mitochondrial complex IV deficiency nuclear type 14
info · Genetic
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2.
Signs and symptoms
- Epicanthus
- Cognitive impairment
- Short stature
- Sensorimotor neuropathy
- Deeply set eye
- Global developmental delay
- Decreased activity of mitochondrial complex IV
- Obesity
- Cytochrome C oxidase-negative muscle fibers
- Exercise intolerance
Also known as: MC4DN14