Abstract
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.
Publication types
- Research Support, Non-U.S. Gov't
- Research Support, U.S. Gov't, P.H.S.
MeSH terms
- Adolescent
- Adult
- Child
- Child, Preschool
- Dystonia / diagnosis*
- Dystonia / genetics
- Dystonia / metabolism
- Female
- Humans
- Infant
- Leg
- Male
- Mitochondria / metabolism
- Nervous System Diseases / diagnosis
- Nervous System Diseases / genetics
- Nervous System Diseases / metabolism
- Optic Nerve Diseases / diagnosis
- Optic Nerve Diseases / genetics
- Pedigree
- Retinal Degeneration / diagnosis*
- Retinal Degeneration / genetics
- Retinal Degeneration / metabolism