Ital J Neurol Sci. 1988 Feb;9(1):65-71.

Mitochondrial encephalo-neuro-myopathy with myoclonus epilepsy, basal nuclei calcification and hyperlactacidemia.

Federico A, Cornelio F, Di Donato S, Ederli E, Fabrizi GM, Manneschi L, Guazzi GC.

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Istituto di Scienze Neurologiche e Centro per lo studio delle Encefalo-Neuro-Miopatie Genetiche, dell'Università di Siena.

Abstract

We report a new case of MERRF (myoclonus epilepsy with ragged red fibers) syndrome with basal nuclei calcification on the brain CT scan, without hormonal abnormalities, with high CSF protein and hyperlactacidemia, juvenile onset and death at 18 years. Biochemical study of mitochondrial muscle enzymes showed decreased NADH-cytochrome-C-reductase and Succinate-cytochrome C-reductase activity, suggesting a Complex III defect of the respiratory chain. Similar reported cases are reviewed.

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Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chain. [Pediatr Res. 1984]
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Ital J Neurol Sci. 1988 Feb ;9(1):65-71.

PubMed
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