Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3.
Barca, E.; Musumeci, O.; Montagnese, F.; Marino, S.; Granata, F.; Nunnari, D.; Peverelli, L.; DiMauro, S.; Quinzii, C. M.; Toscano, A.
[Report] Clinical Genetics. 90(2):156-160, August 2016.

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