Article
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
The EMBO journal - 1 Dec 2020
Hathazi Denisa, Griffin Helen, Jennings Matthew J, Giunta Michele, Powell Christopher, Pearce Sarah F, Munro Benjamin, Wei Wei, Boczonadi Veronika, Poulton Joanna, Pyle Angela, Calabrese Claudia, Gomez-Duran Aurora, Schara Ulrike, Pitceathly Robert D S, Hanna Michael G, Joost Kairit, Cotta Ana, Paim Julia Filardi, Navarro Monica Machado, Duff Jennifer, Mattman Andre, Chapman Kristine, Servidei Serenella, Della Marina Adela, Uusimaa Johanna, Roos Andreas, Mootha Vamsi, Hirano Michio, Tulinius Mar, Giri Mamta, Hoffmann Eric P, Lochmüller Hanns, DiMauro Salvatore, Minczuk Michal, Chinnery Patrick F, Müller Juliane S, Horvath Rita
Abstract excerpt
Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial myopathy leading to severe metabolic disturbances in infants, which recover spontaneously after 6-months of age. RIRCD is associated with the homoplasmic m.14674T>C mitochondrial DNA mutation; however, only ~ 1/100 carriers develop the disease. We studied 27 affected and 15 unaffected individuals from 19 families and found...
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