Mitochondrial alterations in Rett syndrome.
Findings in the muscle biopsies from 2 patients with Rett syndrome are presented. Routine light microscopy and muscle histochemistry were unremarkable. Electron microscopy revealed mitochondrial alterations, including distention, vacuolation, and membranous changes. The results suggest the possibility of a mitochondrial defect in Rett syndrome.
Ruch
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Department of Obstetrics/Gynecology, Medical College of Ohio, Toledo 43699.
Kurczynski
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TW
Velasco
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ME
D001706:Biopsy; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000648:ultrastructure*; D009132:Muscles / Q000473:pathology; D015518:Rett Syndrome / Q000473:pathology*; D014617:Vacuoles / Q000648:ultrastructure