1.7.e

Disorders of complex V subunits and assembly factors

  • Mitochondrial ATP synthase F1 subunit alpha deficiency
  • Mitochondrial ATP synthase F1 subunit delta deficiency
  • Mitochondrial ATP synthase F1 subunit epsilon deficiency
  • DAPIT deficiency (USMG5 deficiency)
  • Mitochondrial ATP synthase F1 subunit O deficiency
  • Mitochondrial ATP synthase F1 assembly factor 2 deficiency
  • Transmembrane protein 70 deficiency

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