Article
Renal failure from mitochondrial cytopathies.
Nephron - 1 Jan 1997
Buemi M, Allegra A, Rotig A, Gubler M C, Aloisi C, Corica F, Pettinato G, Frisina N, Niaudet P
Abstract excerpt
Mitochondrial cytopathies are metabolic diseases, expressing mutations in nuclear DNA, punctiform mutations or depletions in mitochondrial DNA. These genetic lesions alter mitochondrial oxidative phosphorylation, with a reduction in energy produced for cell activity. Renal disease may be the first sign of mitochondrial cytopathy, or it may appear together with neurological and neuromuscular signs. Fanconi's...
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