combined oxidative phosphorylation deficiency 24

A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome

A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1.

Signs and symptoms

• Ragged-red muscle fibers
• Decreased activity of mitochondrial complex I
• Decreased activity of mitochondrial complex IV
• Elevated circulating creatine kinase activity
• Hearing impairment
• Mild intellectual disability
• Cerebellar atrophy
• Myopathy
• Seizure
• Agenesis of corpus callosum

Also known as: COXPD24