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deficit cytochróm-c oxidázy

  1. Subject h.deficit cytochróm-c oxidázy
    Subject h.Cytochrome-c Oxidase Deficiency
    Entry termsnedostatok cytochróm-c oxidázy
    deficit COX
    deficit mitochondriálneho komplexu IV
    Scope note in EnglishA disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001)
    See also reference (FX) in Slovak komplex IV prenášajúci elektróny
    See also reference (FX) in English Electron Transport Complex IV
    Links (2) - MeSH descriptor
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Number of the records: 1  

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