MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

Lignende værker

• Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis
  af: Ghezzi, Daniele, et al.
  Udgivet: (2012)
• A Homozygous Mutation in LYRM7/MZM1L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity
  af: Invernizzi, Federica, et al.
  Udgivet: (2013)
• VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies
  af: Diodato, Daria, et al.
  Udgivet: (2014)
• The genotypic and phenotypic spectrum of MTO1 deficiency
  af: O'Byrne, James J., et al.
  Udgivet: (2018)
• Mutations in TIMM50 compromise cell survival in OxPhos‐dependent metabolic conditions
  af: Reyes, Aurelio, et al.
  Udgivet: (2018)