Article
Mitochondrial impairment of human muscle in Friedreich ataxia in vivo.
Neuromuscular disorders : NMD - 1 Aug 2000
Vorgerd M, Schöls L, Hardt C, Ristow M, Epplen J T, Zange J
Abstract excerpt
Friedreich ataxia occurs due to mutations in the gene encoding the mitochondrial protein frataxin. This (31)P magnetic resonance spectroscopy study on the calf muscle of Friedreich ataxia patients provides in vivo evidence of a severe impairment of mitochondrial function. Mitochondrial adenosine triphosphate resynthesis was studied by means of the post-exercise recovery of phosphocreatine. After ischemic exercise...
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