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  • Title: [Mitochondrial disease and complete heart block. Kearns-Sayre syndrome. Description of a case].
    Author: Perocchio M, Tomassini B, Biasia R, Belli Valletta M, Cerutti A, Bobba F.
    Journal: Minerva Med; 1992 Dec; 83(12 Suppl 1):7-13. PubMed ID: 1300476.
    Abstract:
    Defects of the mitochondrial respiratory chain form a clinically and biochemically heterogeneous group of diseases. Mitochondrial diseases include myopathies and multisystem disorders that are defined either by biochemical abnormalities of the mitochondria or by the presence of "ragged red fibers" in muscle-biopsy specimens stained with modified Gomori's trichrome stain. Several syndromes have been identified. Typical Kearns-Sayre syndrome is a sporadic condition that is characterized by an onset before the age of 20, progressive external ophthalmoplegia, pigmentary retinopathy and cardiac disorders. Mitochondrial DNA deletions were found in patient with Kearns-Sayre syndrome. We report the case of a 33 year-old woman, with neuromuscular syndrome of the Kearns-Sayre type, insulin-sensitive diabetes and complete heart block, who was implanted a pacemaker.
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