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A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

Mencacci, Niccolo E.; Bandrés Ciga, Sara (2015-06-04)
CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome

Luna-Sánchez, Marta; Hidalgo-Gutiérrez, Agustín; Chaves Serrano, Julio; Barriocanal-Casado, Eliana; Santos Fandila, Ángela; [et al.] (2017)