Conditions / Genetic

mitochondrial complex IV deficiency nuclear type 11

info · Genetic

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX20 gene on chromosome 1q44.

Signs and symptoms

  • Delayed speech and language development
  • Dysarthria
  • Increased circulating lactate concentration
  • Hypotonia
  • Ataxia
  • Increased CSF lactate
  • Small for gestational age
  • Decreased activity of mitochondrial complex IV
  • Cerebellar vermis atrophy
  • Torticollis

Also known as: MC4DN11