Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation |
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Authors: | Schuelke Markus Krude Heiko Finckh Barbara Mayatepek Ertan Janssen Antoon Schmelz Michael Trefz Friedrich Trijbels Frans Smeitink Jan |
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Affiliation: | Department Neuropediatrics, Charité University Hospital, Berlin, Germany. markus.schuelke@charite.de |
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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 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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