Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1

Mitochondrion. 2019 Jul:47:294-297. doi: 10.1016/j.mito.2019.02.004. Epub 2019 Feb 8.


Adult-onset Leigh syndrome is a rare but important manifestation of mitochondrial disease. We report a 17 year old female who presented with subacute encephalopathy, brainstem and extrapyramidal signs, raised CSF lactate, and symmetrical hyperintensities in the basal ganglia on T2-weighted cerebral MRI. The presence of cytochrome c oxidase deficient fibres in muscle tissue prompted sequencing of the entire mitochondrial genome which revealed the novel stop codon mutation m.6579G>A; p.Gly226X in MT-CO1. Here we present the case and review the clinicopathological and molecular spectrum of previously reported MT-CO1 truncating mutations.

Keywords: Cytochrome c oxidase; Leigh syndrome; MT-CO1.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Codon, Terminator*
  • Electron Transport Complex IV / genetics*
  • Electron Transport Complex IV / metabolism
  • Female
  • Humans
  • Leigh Disease / enzymology
  • Leigh Disease / genetics*
  • Optic Atrophies, Hereditary / enzymology
  • Optic Atrophies, Hereditary / genetics*


  • Codon, Terminator
  • Electron Transport Complex IV
  • cytochrome c oxidase subunit I, human

Supplementary concepts

  • Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult