SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

Daniele Ghezzi, Paola Goffrini, Graziella Uziel, Rita Horvath, Thomas Klopstock, Hanns Lochmüller, Pio D'Adamo, Paolo Gasparini, Tim M. Strom, Holger Prokisch, Federica Invernizzi, Ileana Ferrero, Massimo Zeviani

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Medicine & Life Sciences