• 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.
van Erven PMM, Gabreëls FJM, Ruitenbeek W, Renier WO, Fischer JC. Mitochondrial Encephalomyopathy: Association With an NADH Dehydrogenase Deficiency. Arch Neurol. 1987;44(7):775–778. doi:10.1001/archneur.1987.00520190079019
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