Septo‐optic dysplasia associated with a new mitochondrial cytochrome b mutation
- 28 February 2002
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 51 (3) , 388-392
- https://doi.org/10.1002/ana.10151
Abstract
We report on a 25‐year‐old patient with isolated mitochondrial complex III deficiency and a new heteroplasmic mutation (T14849C) in the cytochrome b gene. He suffered from septo‐optic dysplasia, retinitis pigmentosa, exercise intolerance, hypertrophic cardiomyopathy, and rhabdomyolysis. A HESX1 mutation was excluded as a cause of his septo‐optic dysplasia. Low α‐tocopherol concentrations in his muscles and an elevated urinary leukotriene E4 excretion indicate increased production of reactive oxygen species.Keywords
This publication has 20 references indexed in Scilit:
- A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failureNature Genetics, 2001
- Mitochondrial Encephalomyopathy and Complex III Deficiency Associated with a Stop-Codon Mutation in the Cytochrome b GeneAmerican Journal of Human Genetics, 2000
- An out-of-frame cytochromeb gene deletion from a patient with parkinsonism is associated with impaired complex III assembly and an increase in free radical productionAnnals of Neurology, 2000
- Mutations in mtDNA: Are We Scraping the Bottom of the Barrel?Brain Pathology, 2000
- Treatment of ataxia in isolated vitamin E deficiency caused by α-tocopherol transfer protein deficiencyThe Journal of Pediatrics, 1999
- Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNASer(UCN) mutationAnnals of Neurology, 1998
- The clinical manifestation of the kwashiorkor syndrome is related to increased lipid peroxidationThe Journal of Pediatrics, 1998
- Clinical heterogeneity in respiratory chain complex III deficiency in childhoodJournal of the Neurological Sciences, 1997
- Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscleNeurology, 1996
- Leukotrienes: Biosynthesis, Metabolism, and Pathophysiologic SignificancePediatric Research, 1995