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Article
July 1987

Mitochondrial Encephalomyopathy: Association With an NADH Dehydrogenase Deficiency

Author Affiliations

From the Institute of Neurology (Drs van Erven, Gabreëls, and Renier) and the Institute of Pediatrics (Drs Ruitenbeek and Fischer), St Radboud Hospital, University of Nijmegen, the Netherlands.

Arch Neurol. 1987;44(7):775-778. doi: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.

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