De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.

Ítems similars

• Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.
  per: Tatuch, Y, et al.
  Publicat: (1992)
• Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes.
  per: Blok, R B, et al.
  Publicat: (1997)
• Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio.
  per: Trounce, I, et al.
  Publicat: (1994)
• Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA
  per: Sgarbi, Gianluca, et al.
  Publicat: (2006)
• The frequency of mtDNA 8994 polymorphism and detection of the NARP 8993 mutation
  per: Gray, R, et al.
  Publicat: (2002)