Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.
Baide-Mairena H, Gaudo P, Marti-Sanchez L, Emperador S, Sanchez-Montanez A, Alonso-Luengo O, Correa M, Grau AM, Ortigoza-Escobar JD, Artuch R, Vazquez E, Del Toro M, Garrido-Perez N, Ruiz-Pesini E, Montoya J, Bayona-Bafaluy MP, Perez-Duenas B
Mol Genet Metab. 2019 Mar;126(3):250-258. doi: 10.1016/j.ymgme.2019.01.001. Epub 2019 Jan 5.
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