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Melchionda, L.* et al.: Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. Am. J. Hum. Genet. 95, 315-325 (2014)
Haack, T.B. et al.: Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. J. Med. Genet. 49, 83-89 (2012)
Haack, T.B. et al.: Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat. Genet. 42, 1131-1134 (2010)
Ghezzi, D.* et al.: SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Nat. Genet. 41, 654-656 (2009)
Bugiani, M.* et al.: Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts. Neuropediatrics 34, 211-214 (2003)
Rubie, C.* et al.: Sequence diversity of KIAA0027/MLC1: Are megalencephalic leukoencephalopathy and schizophrenia allelic disorders? Hum. Mutat. 21, 45-52 (2003)