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What is Mitochondrial 13513G>A Mutation in Leigh Syndrome about?

The mitochondrial 13513G>A mutation is frequently associated with Leigh syndrome, particularly in patients exhibiting reduced complex I activity, optic atrophy, and/or Wolff-Parkinson-White syndrome. In a study of 123 patients with complex I deficiency, only two were found to carry the mutation, suggesting it may not be as common as previously thought. The study also confirmed that the adjacent 13514A>G mutation is rare, with no cases identified in the cohort.

Author

Mabel Cazal Pizzo

Language

EN