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Department of Neurology (Drs. Novotny, Dorfman, Louis, and Steinman), Division of Pediatric Neurology (Drs. Novotny and Steinman) and Department of Ophthalmology (Dr. Sogg), Stanford University Medical Center, Stanford, CA; and the Department of Biochemistry (Drs. Wallace and Singh), Emory University School of Medicine, Atlanta, GA.
We studied a kindred in which 8 members had the neuroretinopathy of Leber's disease; 14 had a progressive, generalized dystonia attributed to striatal degeneration; and 1 had both disorders. The mode of inheritance was compatible with maternal transmission. This neurologic disorder may be a mitochondrial disease.
Address correspondence and reprint requests to Dr. Novotny, Department of Neurology, Room C-338, Stanford University Medical Center, Stanford, CA 94305.
Supported in part by NIH grant NS21328 and Muscular Dystrophy Grant 1-778 awarded to D.C. Wallace and by an NIH Teacher Investigator Award NS571 to L. Steinman.
Presented in part at the thirty-seventh annual meeting of the American Academy of Neurology, Dallas, TX, May 1, 1985, as the S. Weir Mitchell award presentation.
Accepted for publication November 21, 1985.
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