1.11.b

Disorders of mitochondrial protein import

  • TOMM70 deficiency
  • TIMM8A deficiency (Mohr-Tranebjaerg syndrome)
  • TIMM14 deficiency (Dilated cardiomyopathy with ataxia – DCMA syndrome; 3-methylglutaconic aciduria type 5)
  • TIMM22 deficiency
  • Acylglycerol kinase deficiency (Sengers syndrome)
  • TIMM50 deficiency (3-methylglutaconic aciduria type 9)
  • MAGMAS deficiency (Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type)

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