Home > D. General pathology > Genetic and developmental anomalies > Genetic metabolic diseases > mtDNA depletion

mtDNA depletion

Saturday 25 June 2011

Clinical forms

- hepatocerebral form
- myopathic form
- encephalomyopathic form
- mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Etiology

- germline mutations of nuclear genes

  • POLG
  • PEO1
  • DGUOK
  • MPV17
  • RRM2B
  • TK2
  • TP