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Journal of Child Neurology
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Rett Syndrome and Mitochondrial Enzyme Deficiencies

Steven B. Coker, MD

Department of Neurology, Loyola University Stritch School of Medicine, Section of Genetics, Maywood, IL

Andrew R. Melnyk, MD

Department of Pediatrics, Loyola University Stritch School of Medicine, Section of Genetics, Maywood, IL

The etiology of Rett syndrome is unknown. Structural mitochondrial abnormalities have been described in muscle in patients with Rett syndrome. We report three children with Rett syndrome and normal muscle mitochondrial structure on light and electron microscopy. However, all had abnormalities in mitochondrial respiratory chain enzymes. (J Child Neurol 1991;6:164-166).

Journal of Child Neurology, Vol. 6, No. 2, 164-166 (1991)
DOI: 10.1177/088307389100600216
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