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Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA

par Tritschler, Hans Jürgen;Andreetta, Francesca;Bonilla, Euardo;Arnaudo, Enrica;Shanske, Sara;DiMauro, Salvatore;Schon, Eric E.A.;Moraes, Carlos Torres;Kadenbach, Bernhard;Danon, Moris Jak;Glass, Stephen;Zelaya, B.M. B.M.;Vamos, Eszter ;Telerman Toppet, Nicole
Référence Neurology, 42, 1, page (209-217)
Publication Publié, 1992-01

Article révisé par les pairs

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Résumé :

We have studied five children with mitochondrial myopathy manifesting within or soon after the first year of life. Muscle biopsies showed ragged-red fibers and decreased respiratory chain activity. All five patients had a severe decrease (2 to 34% of normal) in the amount of muscle mitochondrial DNA (mtDNA). The depletion of mtDNA correlated with absence of mtDNA-encoded translation products and with loss of cytochrome c oxidase enzyme activity in individual muscle fibers. This mitochondrial myopathy of childhood illustrates one phenotypic expression of a novel pathogenetic mechanism in mitochondrial diseases, the specific depletion of mtDNA in affected tissues.