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

Isolated complex I deficiency is a common biochemical phenotype observed in pediatric mitochondrial disease and often arises as a consequence of pathogenic variants affecting one of the ∼65 genes encoding the complex I structural subunits or assembly factors. Such genetic heterogeneity means that ap...

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Detalles Bibliográficos
Autores principales: Alston, Charlotte L., Heidler, Juliana, Dibley, Marris G., Kremer, Laura S., Taylor, Lucie S., Fratter, Carl, French, Courtney E., Glasgow, Ruth I.C., Feichtinger, René G., Delon, Isabelle, Pagnamenta, Alistair T., Dolling, Helen, Lemonde, Hugh, Aiton, Neil, Bjørnstad, Alf, Henneke, Lisa, Gärtner, Jutta, Thiele, Holger, Tauchmannova, Katerina, Quaghebeur, Gerardine, Houstek, Josef, Sperl, Wolfgang, Raymond, F. Lucy, Prokisch, Holger, Mayr, Johannes A., McFarland, Robert, Poulton, Joanna, Ryan, Michael T., Wittig, Ilka, Henneke, Marco, Taylor, Robert W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174280/
https://www.ncbi.nlm.nih.gov/pubmed/30245030
http://dx.doi.org/10.1016/j.ajhg.2018.08.013

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