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  • Title: Biochemical investigations and immunoblot analyses of two unrelated patients with an isolated deficiency in complex II of the mitochondrial respiratory chain.
    Author: Birch-Machin MA, Marsac C, Ponsot G, Parfait B, Taylor RW, Rustin P, Munnich A.
    Journal: Biochem Biophys Res Commun; 1996 Mar 07; 220(1):57-62. PubMed ID: 8602857.
    Abstract:
    Mitochondrial respiratory chain defects involving complex II are comparatively rare. We report the biochemical findings in two unrelated patients who both have an isolated complex II deficiency (40-50% of control values). Western blot analysis of mitochondrial fractions showed different findings between the two patients. In one patient there was a decrease in the levels of both the Fp and Ip subunits whereas in the other patient the levels of all immunoreactive complex II subunits were normal. This is the first time that an isolated deficiency of complex II activity associated with normal levels of protein subunits, using subunit specific antisera, has been described.
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