MT-ATP6 gene mutation; mitochondrial ATP synthase 6 gene mutation

Clinical significance

• defects in MT-ATP6 are the cause of
  • neurogenic muscle weakness, ataxia, & retinitis pigmentosa (NARP)
  • Leber hereditary optic neuropathy
  • Leigh syndrome
  • infantile bilateral striatal necrosis

More general terms

• gene mutation testing; gene mutation analysis

Additional terms

• ATP synthase A chain (ATP synthase 6, protein-6, F0 a element, coupling factor 0-a, MT-ATP6, ATP6, ATPASE6, MTATP)