Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II |
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Authors: | Pagnamenta Alistair T Hargreaves Iain P Duncan Andrew J Taanman Jan-Willem Heales Simon J Land John M Bitner-Glindzicz Maria Leonard James V Rahman Shamima |
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Institution: | Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, UK. |
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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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