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  • Title: Mitochondrial encephalomyopathy. Association with an NADH dehydrogenase deficiency.
    Author: van Erven PM, Gabreëls FJ, Ruitenbeek W, Renier WO, Fischer JC.
    Journal: Arch Neurol; 1987 Jul; 44(7):775-8. PubMed ID: 3593065.
    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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