Mitochondrial myopathy and encephalopathy: three cases--a deficiency of NADH-CoQ dehydrogenase?

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.

• Authors: P L Holliday, A R Climie, J Gilroy, M Z Mahmud
• Journal: Neurology (Neurology) Vol. 33 Issue 12 Pg. 1619-22 (Dec 1983) ISSN: 0028-3878 [Print] United States
• PMID: 6417559 (Publication Type: Case Reports, Journal Article)

Chemical References

• NADH, NADPH Oxidoreductases
• NAD(P)H Dehydrogenase (Quinone)
• Quinone Reductases

Topics

• Adolescent
• Adult
• Brain Diseases (metabolism, pathology)
• Female
• Humans
• Male
• Mitochondria, Muscle (ultrastructure)
• Muscular Diseases (metabolism, pathology)
• NAD(P)H Dehydrogenase (Quinone)
• NADH, NADPH Oxidoreductases (deficiency)
• Quinone Reductases (deficiency)