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

We describe the clinical and molecu lar genetic investigations of four unrelated children who presented with neuroradiological findings and/or elevated lactate levels, highly suggestive of an underlying mitochondrial diagnosis.

Source: The American Journal of Human Genetics - September 20, 2018 Category: Genetics & Stem Cells Authors: Charlotte L. Alston, Juliana Heidler, Marris G. Dibley, Laura S. Kremer, Lucie S. Taylor, Carl Fratter, Courtney E. French, Ruth I.C. Glasgow, Ren é G. Feichtinger, Isabelle Delon, Alistair T. Pagnamenta, Helen Dolling, Hugh Lemonde, Neil Aiton, Alf Bjø Tags: Report Source Type: research