Conditions / Genetic
mitochondrial complex IV deficiency nuclear type 17
info · Genetic
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA8 gene on chromosome 14q32.33.
Signs and symptoms
- Cavitating leukodystrophy
- Decreased activity of mitochondrial complex IV
- Developmental regression
- Spastic tetraparesis
- Sensorimotor neuropathy
- Intellectual disability
- Cytochrome C oxidase-negative muscle fibers
- Seizure
- Dysarthria
- Ataxia
Also known as: MC4DN17