Abstract
We describe three patients with mitochondrial myopathy, dementia, loss of vision and hearing, seizure disorder with myoclonus, intermittent headaches of a vascular type, visual hallucinations, cerebellar dysfunction, and lactic acidosis. Muscle biopsies in all patients and liver biopsy in one revealed abnormal mitochondria. The disorder may be due to a deficiency of mitochondrial NADH-CoQ dehydrogenase.
MeSH terms
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Adolescent
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Adult
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Brain Diseases / metabolism*
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Brain Diseases / pathology
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Female
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Humans
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Male
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Mitochondria, Muscle / ultrastructure*
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Muscular Diseases / metabolism*
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Muscular Diseases / pathology
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NAD(P)H Dehydrogenase (Quinone)
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NADH, NADPH Oxidoreductases / deficiency*
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Quinone Reductases / deficiency*
Substances
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NADH, NADPH Oxidoreductases
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NAD(P)H Dehydrogenase (Quinone)
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Quinone Reductases