Conditions / Genetic
combined oxidative phosphorylation deficiency 33
info · Genetic
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2.
Signs and symptoms
- Decreased activity of mitochondrial complex III
- Decreased activity of mitochondrial complex I
- Cardiomyopathy
- Decreased activity of mitochondrial complex IV
- Increased circulating lactate concentration
- Myopathy
- Exercise intolerance
- Lactic acidosis
- Oligohydramnios
- Cardiomegaly
Also known as: COXPD33