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Ruiter, E.M. et al.

Ruiter, Siers, van den Elzen, van Engelen, Smeitink, Rodenburg, Hol,

The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White.

The m.13513G>A transition in the mitochondrial gene encoding the ND5 subunit of respiratory chain complex I, can cause mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) and has been reported to be a frequent cause of Leigh syndrome (LS). We determined the frequency of the mutation in a cohort of 123 patients with reduced complex I activity in muscle (n=113) or fibroblast (n=10) tissue. We describe a Pyrosequencingtrade mark assay for rapid detection and quantification of the m.13513G>A mutation. Two patients with the mutation were identified; both had LS, optical atrophy and a Wolff-Parkinson-White Syndrome (WPWS)-like cardiac conduction defect. The clinical presentation of the m.13513G>A mutation is discussed. We conclude that the m.13513G>A mutation seems not as frequent as previously suggested and is most likely to be present in patients with Leigh (-like) syndrome combined with a complex I deficiency, optic atrophy and/ or WPWS. In addition, we confirmed that the adjacent m.13514A>G mutation is a rare cause of LS or MELAS since no cases with this transition were found.European Journal of Human Genetics (2007) 15, 155-161. doi:10.1038/sj.ejhg.5201735; published online 15 November 2006.[1]

References

The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White. Ruiter, E.M., Siers, M.H., van den Elzen, C., van Engelen, B.G., Smeitink, J.A., Rodenburg, R.J., Hol, F.A. Eur. J. Hum. Genet. (2007) [Pubmed]

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