Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
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Rutger O. Vogel | M. Huynen | H. Venselaar | J. Smeitink | L. P. Van den Heuvel | Ann Saada | P. Willems | L. Nijtmans | A. Shaag | M. Shohat | M. V. D. van den Brand | O. Reish | H. Wessels | Saskia J G Hoefs | Flora Barghuti
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