SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness
Carrozzo, Rosalba, Dionisi-Vici, Carlo, Steuerwald, Ulrike, Lucioli, Simona, Deodato, Federica, Di Giandomenico, Sivia, Bertini, Enrico, Franke, Barbara, Kluijtmans, Leo A. J., Meschini, Maria Chiara, Rizzo, Cristiano, Piemonte, Fiorella, Rodenburg, Richard, Santer, René, Santorelli, Filippo M., van Rooij, Arno, Vermunt-de Koning, Diana, Morava, Eva, Wevers, Ron A.
Published in Brain (London, England : 1878) (01.03.2007)
Published in Brain (London, England : 1878) (01.03.2007)
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Journal Article
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Commentary
CHINNERY, Patrick F, CARROZZO, Rosalba, MESCHINI, Maria Chiara, RIZZO, Cristiano, PIEMONTE, Fiorella, RODENBURG, Richard, SANTER, René, SANTORELLI, Filippo M, VAN ROOIJ, Arno, VERMUNT-DE KONING, Diana, MORAVA, Eva, WEVERS, Ron A, DIONISI-VICI, Carlo, STEUERWALD, Ulrike, LUCIOLI, Simona, DEODATO, Federica, DI GIANDOMENICO, Sivia, BERTINI, Enrico, FRANKE, Barbara, KLUIJTMANS, Leo A. J
Published in Brain (London, England : 1878) (2007)
Get full text
Published in Brain (London, England : 1878) (2007)
Journal Article