The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant

Documenti analoghi

• URINE HETEROPLASMY IS THE BEST PREDICTOR OF CLINICAL OUTCOME IN THE m.3243A>G mtDNA MUTATION
  di: Whittaker, R G., et al.
  Pubblicazione: (2009)
• mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease
  di: Grady, John P, et al.
  Pubblicazione: (2018)
• The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease
  di: Yarham, John W., et al.
  Pubblicazione: (2013)
• A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes
  di: Lim, Albert Z., et al.
  Pubblicazione: (2019)
• MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle
  di: Blakely, Emma L., et al.
  Pubblicazione: (2012)