Familial cardiomyopathy with cataracts and lactic acidosis: a defect in complex I (NADH-dehydrogenase) of the mitochondria respiratory chain. [electronic resource]
Producer: 19970206Description: 513-21 p. digitalISSN:- 0031-3998
- Acidosis, Lactic -- etiology
- Blotting, Northern
- Blotting, Southern
- Blotting, Western
- Cardiomyopathies -- etiology
- Cataract -- etiology
- Cells, Cultured
- Electron Transport -- physiology
- Female
- Fibroblasts -- cytology
- Genetic Diseases, Inborn -- etiology
- Humans
- Male
- Manganese
- Mitochondria -- metabolism
- Muscle, Skeletal -- metabolism
- Myocardium -- metabolism
- NAD(P)H Dehydrogenase (Quinone) -- deficiency
- Pedigree
- Pregnancy
- Skin -- cytology
- Superoxide Dismutase -- metabolism
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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