Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study
M T Dotti1, L Manneschi, A Malandrini
1Institute of Neurological Sciences, University of Siena, Italy.
Brain & Development
|March 1, 1993
Abstract:
We report the ultrastructural and biochemical alterations of muscle mitochondria in two girls with Rett syndrome. Our findings suggest the presence of an energy metabolism impairment the primary or secondary role of which in the pathogenesis of this syndrome cannot be defined at present.
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