Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease.
Van Haute L, Páleníková P, Tang JX, Nash PA, Simon MT, Pyle A, Oláhová M, Powell CA, Rebelo-Guiomar P, Stover A, Champion M, Deshpande C, Baple EL, Stals KL, Ellard S, Anselem O, Molac C, Petrilli G, Loeuillet L, Grotto S, Attie-Bitach T, Abdenur JE, Taylor RW, Minczuk M.
Van Haute L, et al. Among authors: powell ca.
EMBO Mol Med. 2024 Nov 20. doi: 10.1038/s44321-024-00172-5. Online ahead of print.
EMBO Mol Med. 2024.
PMID: 39567835
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