Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations.
Zanette V, Reyes A, Johnson M, do Valle D, Robinson AJ, Monteiro V, Telles BA, L R Souza R, S F Santos ML, Beninca C, Zeviani M
Neurol Genet. 2020 Oct 7;6(6):e521. doi: 10.1212/NXG.0000000000000521. eCollection 2020 Dec.
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