Article
Mitochondrial dysfunction caused by novel ATAD3A mutations.
Molecular genetics and metabolism - 1 Jan 2000
Dorison Nathalie, Gaignard Pauline, Bayot Aurélien, Gelot Antoinette, Becker Pierre Hadrien, Fourati Salma, Lebigot Elise, Charles Perrine, Wai Timothy, Therond Patrice, Slama Abdelhamid
Abstract excerpt
Mitochondrial respiratory chain integrity depends on a number of proteins encoded by nuclear and mitochondrial genomes. Mutations of such factors can result in isolated or combined respiratory chain deficits, some of which can induce abnormal morphology of the mitochondrial network or accumulation of intermediary metabolites. Consequently, affected patients are clinically heterogeneous, presenting with central...
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