Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA(Gly) (MT-TG) variant

Lignende værker

• Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations
  af: Bugiardini, Enrico, et al.
  Udgivet: (2020)
• The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease
  af: Yarham, John W., et al.
  Udgivet: (2013)
• A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease
  af: Lehmann, Diana, et al.
  Udgivet: (2015)
• MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy
  af: Bugiardini, Enrico, et al.
  Udgivet: (2019)
• Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I
  af: Danhelovska, Tereza, et al.
  Udgivet: (2020)