title: Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation.
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.
authors.affiliation: Department Neuropediatrics, Charité University Hospital, Berlin, Germany. markus.schuelke@charite.de
authors.forename: Markus
authors.initials: M
authors.lastname: Schuelke
authors.forename: Heiko
authors.initials: H
authors.lastname: Krude
authors.forename: Barbara
authors.initials: B
authors.lastname: Finckh
authors.forename: Ertan
authors.initials: E
authors.lastname: Mayatepek
authors.forename: Antoon
authors.initials: A
authors.lastname: Janssen
authors.forename: Michael
authors.initials: M
authors.lastname: Schmelz
authors.forename: Friedrich
authors.initials: F
authors.lastname: Trefz
authors.forename: Frans
authors.initials: F
authors.lastname: Trijbels
authors.forename: Jan
authors.initials: J
authors.lastname: Smeitink
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence / Q000235:genetics; D000975:Antioxidants / Q000378:metabolism; D002478:Cells, Cultured; D003573:Cytochrome b Group / Q000235:genetics*; D014450:Electron Transport Complex III / Q000172:deficiency; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D017999:Leukotriene E4 / Q000652:urine; D008297:Male; D008928:Mitochondria / Q000378:metabolism*; D018482:Muscle, Skeletal / Q000201:enzymology; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics; D025962:Septo-Optic Dysplasia / Q000235:genetics* / Q000378:metabolism
chemical_list: D000975:Antioxidants; D003573:Cytochrome b Group; D017999:Leukotriene E4; D014450:Electron Transport Complex III