1.7.c

Disorders of complex III subunits and assembly factors

  • UQCRFS1 deficiency
  • UQCRB deficiency
  • UQCRC2 deficiency
  • UQCRQ deficiency
  • UQCC2 deficiency (Mitochondrial complex III deficiency, nuclear type 7)
  • UQCC3 deficiency
  • Mitochondrial cytochrome c1 deficiency
  • Holocytochrome c synthase deficiency (Linear skin defects with multiple congenital anomalies type 1)
  • BCS1L deficiency (GRACILE syndrome; Björnstad syndrome)
  • TTC19 deficiency
  • LYRM7 deficiency

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