mitochondrial complex IV deficiency nuclear type 8

A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, h

A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability that has_material_basis_in homozygous mutation in the TACO1 gene on chromosome 17q23.3.

Signs and symptoms

• Focal T2 hyperintense basal ganglia lesion
• Intellectual disability
• Cytochrome C oxidase-negative muscle fibers
• Optic atrophy
• Perseverative thought
• Dysarthria
• Abnormal pyramidal sign
• Bradykinesia
• Short stature
• Spastic tetraparesis

Also known as: MC4DN8