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A. Pedigrees of four unrelated families with mutations in NDUFAF5 and Leigh syndrome. Open symbols with dots indicate mutation carriers, grey shading indicates Leigh syndrome; (p) indicates a paternally (m) a maternally inherited mutation. The S-adenosylmethionine-dependent methyltransferase domain is abbreviated as “SAM domain” B. The conservation between 7 species is demonstrated by protein sequence alignment with the mutation shaded in grey.
