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Neurological Institute (Drs. Servidei, Manfredi, Ricci, Silvestri, Bertini, and Tonali), Università Cattolica, Rome; the Department of Biochemistry and Genetics (Drs. Zeviani, Gellera, and Di Donato), Istituto Nazionale Neurologico "Carlo Besta," Milan, Italy; and Columbia University College of Physicians and Surgeons (Dr. Di Mauro), New York, NY.
We studied a large family with a dominantly inherited mitochondrial myopathy characterized by progressive external ophthalmoplegia, dysphagia, cataract, lactic acidosis, exercise intolerance, and early death. Morphologic studies of muscle biopsies suggested mitochondrial heteroplasmy and revealed ragged-red fibers and decreased histochemical reactions for cytochrome c oxidase and succinate dehydrogenase. Biochemistry showed a partial defect of cytochrome c oxidase and a mild generalized reduction of other mitochondrial enzymes requiring mitochondrial DNA-encoded subunits. Southern blot analysis and PCR amplification showed mitochondrial DNA deletions in muscle of all affected members, but not in lymphocytes or fibroblasts, suggesting a tissue-specific distribution. Deletions were multiple and seemed to increase with time and to correlate with the severity of the disease.
Address correspondence and reprint requests to Dr. Serenella Servidei, Istituto di Neurologia, Università Cattolica, largo Gemelli 8, 00168, Rome, Italy.
Supported by Unione Italiana Lotta alla Distrofia Muscolare (UILDM), Sezione Laziale "Giulia Testore."
Received August 27, 1990. Accepted for publication in final form December 14, 1990.
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