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SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

by Carrozzo, R., Dionisi-Vici, C., Steuerwald, U., Lucioli, S., Deodato, F., Giandomenico, S. Di, Bertini, E., Franke, B., Kluijtmans, L.A.J., Meschini, M.C., Rizzo, C., Piemonte, F., Rodenburg, R.J.T., Santer, R., Santorelli, F.M., Rooij, A. van, Vermunt-de Koning, D.G.M., Morava, E., Wevers, R.A.
Published in Brain (2007)