Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

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 ~&am...

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Main Authors:	Hathazi, D, Griffin, H, Jennings, MJ, Giunta, M, Powell, C, Pearce, SF, Munro, B, Wei, W, Boczonadi, V, Poulton, J, Pyle, A, Calabrese, C, Gomez-Duran, A, Schara, U, Pitceathly, RDS, Hanna, MG, Joost, K, Cotta, A, Paim, JF, Navarro, MM, Duff, J, Mattman, A, Chapman, K, Servidei, S, Della Marina, A, Uusimaa, J, Roos, A, Mootha, V, Hirano, M, Tulinius, M, Giri, M, Hoffmann, EP, Lochmüller, H, DiMauro, S, Minczuk, M, Chinnery, PF, Müller, JS, Horvath, R
Format:	Journal article
Language:	English
Published:	EMBO Press 2020

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