Conditions / Genetic
mitochondrial complex IV deficiency nuclear type 4
info · Genetic
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SCO1 gene on chromosome 17p13.1.
Signs and symptoms
- Axial hypotonia
- Hepatic steatosis
- Elevated circulating aspartate aminotransferase concentration
- Bradycardia
- Increased circulating lactate concentration
- Hepatomegaly
- Generalized hypotonia
- Brain atrophy
- Elevated circulating alanine aminotransferase concentration
- Failure to thrive
Also known as: MC4DN4