| 1 | SDHAF1, SDHAF1D |
| SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. | |
| Ghezzi D, Goffrini P, Uziel G, Horvath R, Klopstock T, Lochmüller H, D'Adamo P, Gasparini P, Strom TM, Prokisch H, Invernizzi F, Ferrero I, Zeviani M. | |
| Nat Genet at Genet. 2009 May 24. [Epub ahead of print] 2009 | |