Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1999823 | Molecular Genetics and Metabolism | 2006 | 8 Pages |
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.
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Biochemistry
Authors
Alistair T. Pagnamenta, Iain P. Hargreaves, Andrew J. Duncan, Jan-Willem Taanman, Simon J. Heales, John M. Land, Maria Bitner-Glindzicz, James V. Leonard, Shamima Rahman,