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NEUROLOGY 1984;34:48
© 1984 American Academy of Neurology

Mitochondria1 encephalomyopathy with decreased succinate-cytochrome c reductase activity

Jack E. Riggs, MD, Sydney S. Schochet, Jr, MD, Alexander V. Fakadej, MD, Alexander Papadimitriou, MD, Salvatore DiMauro, MD, Thomas W. Crosby, MD, Ludwig Gutmann, MD and Richard T. Moxley, III, MD

From the Departments of Neurology (Drs. Riggs, Fakadej, Crosby, and Gutmann) and Pathology (Dr. Schochet), West Virginia University School of Medicine, Morgantown, WV; the Department of Neurology (Drs. DiMauro and Papadimitriou), College of Physicians and Surgeons, Columbia University, New York, NY; and the Department of Neurology (Dr. Moxley), University of Rochester School of Medicine and Dentistry, Rochester. NY.

We report two siblings with a mitochondrial encephalomyopathy. The syndrome was characterized by ataxia, intellectual impairment, myoclonic jerks, rare seizures, and small stature. Muscle biopsy specimens showed abnormal accumulations of mitochondria and lipid droplets. Biochemical studies on muscle demonstrated decreased succinate-cytochrome c reductase activity in the mitochondrial respiratory chain.

Address correspondence to Dr. Riggs, Department of Neurology, West Virginia University Medical Center, Morgantown, WV 26506.

Accepted for publication April 11, 1983.




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