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

Annals of Neurology

Volumn 51, Issue 3, 2002, Pages 388-392

  Schuelke, Markus ^a,b   Krude, Heiko ^b   Finckh, Barbara ^c   Mayatepek, Ertan ^d   Janssen, Antoon ^a   Schmelz, Michael ^e   Trefz, Friedrich ^f   Trijbels, Frans ^f   Smeitink, Jan ^a  

^a Department Neuropediatrics ^*  (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c UNIVERSITY OF HAMBURG   (Germany)

^d UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^e Center of Metabolic Diagnostics   (Germany)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TOCOPHEROL; CYTOCHROME B; LEUKOTRIENE E4; REACTIVE OXYGEN METABOLITE; UBIQUINOL CYTOCHROME C REDUCTASE;

ADULT; ARTICLE; CASE REPORT; DISEASE ASSOCIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DYSPLASIA; EXERCISE TOLERANCE; GENE MUTATION; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; MALE; NUCLEOTIDE SEQUENCE; OPTIC NERVE DISEASE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; RHABDOMYOLYSIS; URINARY EXCRETION;

ADULT; AMINO ACID SEQUENCE; ANTIOXIDANTS; CELLS, CULTURED; CYTOCHROME B GROUP; ELECTRON TRANSPORT COMPLEX III; FIBROBLASTS; HUMANS; LEUKOTRIENE E4; MALE; MITOCHONDRIA; MUSCLE, SKELETAL; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; SEPTO-OPTIC DYSPLASIA;

EID: 0036194222     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10151     Document Type: Article

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