mitochondrial complex IV deficiency nuclear type 9

A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11.

Signs and symptoms

• Hypertrophic cardiomyopathy
• Cardiomyocyte mitochondrial proliferation
• Decreased activity of mitochondrial complex IV

Also known as: MC4DN9; fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3