Phenotypic spectrum of maternally inherited Leigh Syndrome associated with the m.8993T>G variant

Antzeko izenburuak

• Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome
  nork: Uittenbogaard, Martine, et al.
  Argitaratua: (2018)
• The importance of the nuclear background on the phenotypic signature caused by the MELAS m.1630 A>G variant
  nork: Gropman, Andrea, et al.
  Argitaratua: (2019)
• Vaccination triggering onset of m.8993T > G associated Leigh syndrome
  nork: Finsterer, Josef, et al.
  Argitaratua: (2018)
• m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening
  nork: Mori, Mari, et al.
  Argitaratua: (2014)
• Homoplasmy of the m. 8993 T>G variant in a patient without MRI findings of Leigh syndrome, ataxia or retinal abnormalities.
  nork: Saneto, Russell P., et al.
  Argitaratua: (2021)