Article
The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White.
European journal of human genetics : EJHG - 1 Feb 2007
Ruiter E Mariken, Siers Marloes H, van den Elzen Christa, van Engelen Baziel G, Smeitink Jan A M, Rodenburg Richard J, Hol Frans A
Abstract excerpt
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...
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