Cerebellar ataxia and severe muscle CoQ(10) deficiency in a patient with a novel mutation in ADCK3

Por Barca, E., Musumeci, O., Montagnese, F., Marino, S., Granata, F., Nunnari, D., Peverelli, L., DiMauro, S., Quinzii, C.M., Toscano, A.
Publicado no Clin Genet (2016)