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

Benzer Materyaller

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