Mitochondrial Encephalomyopathy
- 1 July 1987
- journal article
- case report
- Published by American Medical Association (AMA) in Archives of Neurology
- Vol. 44 (7), 775-778
- https://doi.org/10.1001/archneur.1987.00520190079019
Abstract
• A 17-year-old patient had a progressive hypokinetic-rigid syndrome and several other signs and symptoms that indicated central nervous system involvement. Biochemical studies revealed a reduced form of nicotinamide-adenine dinucleotide dehydrogenase deficiency in skeletal muscle. Clinical signs and symptoms, and their association with an established defect of energy metabolism, led us to classify this disorder as a mitochondrial encephalomyopathy of Leigh's type.Keywords
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