In a 24-year-old womanwith mitochondrial encephalomyopathy presenting hypertrophic cardiomyopathy, microscopical examination of myocardial biopsy specimen disclosed severe vacuolar degeneration of myocardium and aggregates of enlarged mitochondria with proliferated cristae. Limb muscle biopsy specimen showed "ragged-red fibers" light microscopically and enlarged abnormal mitochondria with markedly increased cristae ultrastructurally.Mitochondrial DNAanalysis by polymerase chain reaction (PCR) revealed an A-to-G transition in the mitochondrial transfer RNALeu(UUR) gene at nucleotide position 3,243 which is reported to be associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).However, the clinical features of this case, presenting mainly cardiac abnormalities, were not consistent with the typical MELAS. (Internal Medicine 34: 670-673, 1995)
Tan EM, et al: The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 25: 1271, 1982. 2) Walts AE, Dubois EL : Acute dissecting aneurysm of the aorta as the fatal event in systemic lupus erythematosus. Amer Heart J 93 : 378, 1977. 3) Okiye SE, et al : Acute dissecting aneurysm of the aorta after renal transplantation. J Urol 129: 803, 1983. 5) Bulkley BH, Roberts WC : The heart in systemic lupus erythematosus and the changes induced in it by corticosteroid therapy. A study of 36 necropsy patients. Amer J Med 58: 243, 1975. 6) Weinstein A, et al : Antibodies to native DNA and serum complement (C3) levels. Amer J Med 74: 206, 1983.
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