Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.
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F. Tort | A. Ribes | R. Artuch | À. García‐Cazorla | P. Briones | L. Matalonga | C. Vianey‐Saban | E. Quintana | M. Thió | C. Acquaviva | A. Navarro-Sastre | J. García-Villoria | Á. Arias | X. Ferrer-Cortès | N. Bujan | À. García-Cazorla | C. Vianey-Saban | Leslie Matalonga