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Ann Neurol. 2002 Mar;51(3):388-92.

Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation.

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Department Neuropediatrics, Charité University Hospital, Berlin, Germany.


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 alpha-tocopherol concentrations in his muscles and an elevated urinary leukotriene E(4) excretion indicate increased production of reactive oxygen species.

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