Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.

Baide-Mairena H, Gaudó P, Marti-Sánchez L, Emperador S, Sánchez-Montanez A, Alonso-Luengo O, Correa M, Grau AM, Ortigoza-Escobar JD, Artuch R, Vázquez E, Del Toro M, Garrido-Pérez N, Ruiz-Pesini E, Montoya J, Bayona-Bafaluy MP, Pérez-Dueñas B. Mol Genet Metab. 2019 Jan 5. pii: S1096-7192(18)30690-5. doi: 10.1016/j.ymgme.2019.01.001. [Epub ahead of print]