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  • Title: Congestive heart failure due to mitochondrial cardiomyopathy in Kearns-Sayre syndrome.
    Author: Kleber FX, Park JW, Hübner G, Johannes A, Pongratz D, König E.
    Journal: Klin Wochenschr; 1987 May 15; 65(10):480-6. PubMed ID: 3599796.
    Abstract:
    Despite extensive analysis of the ultrastructural changes in skeletal muscle fibers in chronic progressive external ophthalmoplegia (CPEO), similar changes in the heart muscle fibers of patients with cardiac involvement in CPEO, called Kearns-Sayre syndrome, have not been described in detail. We report the clinical long-term course in a patient with Kearns-Sayre syndrome in whom mitochondrial cardiomyopathy was suspected in vivo and was confirmed at autopsy as the underlying cause of severe dilative cardiomyopathy. Enlarged, abnormally structured, excessively augmented mitochondria and loss of myofibrils could be shown both in skeletal and heart muscle cells.
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