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