Leber's disease and dystonia: a mitochondrial disease.
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.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004421:Dystonia / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D007223:Infant; D007866:Leg; D008297:Male; D008928:Mitochondria / Q000378:metabolism; D009422:Nervous System Diseases / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D009901:Optic Nerve Diseases / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D012162:Retinal Degeneration / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism