Journal
ANNALS OF NEUROLOGY
Volume 51, Issue 3, Pages 388-392Publisher
WILEY
DOI: 10.1002/ana.10151
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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 et-tocopherol concentrations in his muscles and an elevated urinary leukotriene E-4 excretion indicate increased production of reactive oxygen species.
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