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[Leber's hereditary optic neuropathy clinical features in patients with mitochondrial DNA m.13513G>A candidate mutation].

N A AndreevaYu K MurakhovskayaPolina G TsygankovaTatiana KrylovaN L Sheremet
Published in: Vestnik oftalmologii (2022)
The m.13513G>A mutation can be considered as primary LHON mutation. The list of pathogenic variants recommended for testing LHON can include this mutation. The m.13513 G>A mutation determines the mild LHON course and good visual functions prognosis in these patients.
Keyphrases
  • mitochondrial dna
  • copy number
  • end stage renal disease
  • chronic kidney disease
  • ejection fraction
  • gene expression
  • peritoneal dialysis