Conditions / Genetic
mitochondrial complex IV deficiency nuclear type 7
info · Genetic
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX6B1 gene on chromosome 19q13.12.
Signs and symptoms
- Hyperketonemia
- Generalized hypotonia
- Cerebral visual impairment
- Hyperammonemia
- Ventriculomegaly
- Muscle weakness
- Mental deterioration
- Leukodystrophy
- Metabolic acidosis
- Cytochrome C oxidase-negative muscle fibers
Also known as: MC4DN7