Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.

Abstract

We report a patient with relatively mild Leigh syndrome and mitochondrial respiratory chain complex II deficiency caused by a homozygous G555E mutation in the nuclear encoded flavoprotein subunit of succinate dehydrogenase. This mutation has previously been reported in a lethal-infantile presentation of complex II deficiency. Such marked phenotypic heterogeneity, although typical of heteroplasmic mutations in the mitochondrial genome, is unusual for nuclear mutations. Comparable activities and stability of mitochondrial respiratory chain enzymes were demonstrated in both patients, so other reasons for the phenotypic variability are considered.

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@article{Pagnamenta2006PhenotypicVO, title={Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.}, author={Alistair T. Pagnamenta and Iain P. Hargreaves and Andrew J. Duncan and J W Taanman and Simon J. R. Heales and John M. Land and Maria A. K. Bitner-Glindzicz and James V. Leonard and Shamima Rahman}, journal={Molecular genetics and metabolism}, year={2006}, volume={89 3}, pages={214-21} }