Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

Charlotte L. Alston, Juliana Heidler, Marris G. Dibley, Laura S. Kremer, Lucie S. Taylor, Carl Fratter, Courtney E. French, Ruth I.C. Glasgow, René G. Feichtinger, Isabelle Delon, Alistair T. Pagnamenta, Helen Dolling, Hugh Lemonde, Neil Aiton, Alf Bjørnstad, Lisa Henneke, Jutta Gärtner, Holger Thiele, Katerina Tauchmannova, Gerardine QuaghebeurJosef Houstek, Wolfgang Sperl, F. Lucy Raymond, Holger Prokisch, Johannes A. Mayr, Robert McFarland, Joanna Poulton, Michael T. Ryan, Ilka Wittig, Marco Henneke, Robert W. Taylor

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