Conditions / Genetic
mitochondrial complex IV deficiency nuclear type 19
info · Genetic
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET117 gene on chromosome 20p11.23.
Signs and symptoms
- Bradykinesia
- Hypokinesia
- Babinski sign
- Developmental regression
- Increased circulating lactate concentration
- Increased CSF lactate
- Motor delay
- Increased mitochondrial number
- Decreased activity of mitochondrial complex IV
- Increased CSF alanine concentration
Also known as: MC4DN19