NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease

Mitochondrial complex I deficiency is the most common defect of the oxidative phosphorylation system. We report a patient with Leigh syndrome who showed a complex I deficiency expressed in cultured fibroblasts and muscle tissue. To find the genetic cause of the complex I deficiency, we screened the...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Hoefs, Saskia J G, van Spronsen, Francjan J, Lenssen, Ellen W H, Nijtmans, Leo G, Rodenburg, Richard J, Smeitink, Jan A M, van den Heuvel, Lambert P
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2011
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3061993/
https://ncbi.nlm.nih.gov/pubmed/21150889
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.204
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky