MtDNA and nuclear mutations affecting oxidative phosphorylation: correlating severity of clinical defect with extent of bioenergetic compromise.

doi:10.1007/BF00763102

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Article

MtDNA and nuclear mutations affecting oxidative phosphorylation: correlating severity of clinical defect with extent of bioenergetic compromise.

Journal of bioenergetics and biomembranes - 1 Jun 1994

Robinson B H

Abstract excerpt

Rates of ATP synthesis were studied in cultured skin fibroblasts treated with digitonin. In fibroblasts from patients with complex I deficiency, complex IV and complex V deficiency rates of ATP synthesis were decreased below the levels found in controls. In mitochondria isolated from cultured lym...

Topics

Adenosine Triphosphatases
Adenosine Triphosphate
DNA, Mitochondrial
Energy Metabolism
Humans
Leigh Disease
Mitochondria
Mitochondrial Myopathies
Oxidative Phosphorylation
Phenotype
Point Mutation

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