Bi‐allelic pathogenic variants in <i>NDUFC2</i> cause early‐onset Leigh syndrome and stalled biogenesis of complex I

Ahmad Alahmad, Alessia Nasca, Juliana Heidler, Kyle Thompson, Monika Oláhová, Andrea Legati, Eleonora Lamantea, Jana Meisterknecht, Manuela Spagnolo, Langping He,

EMBO Molecular Medicine · 2020 · 28 citations · 40 references

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