Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

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...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:EMBO J
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2020
Pynciau:
Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7705457/
https://ncbi.nlm.nih.gov/pubmed/33128823
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/embj.2020105364
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