NDUFA2 Complex I Mutation Leads to Leigh Disease

Mitochondrial isolated complex I deficiency is the most frequently encountered OXPHOS defect. We report a patient with an isolated complex I deficiency expressed in skin fibroblasts as well as muscle tissue. Because the parents were consanguineous, we performed homozygosity mapping to identify homoz...

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Autori principali: Hoefs, Saskia J.G., Dieteren, Cindy E.J., Distelmaier, Felix, Janssen, Rolf J.R.J., Epplen, Andrea, Swarts, Herman G.P., Forkink, Marleen, Rodenburg, Richard J., Nijtmans, Leo G., Willems, Peter H., Smeitink, Jan A.M., van den Heuvel, Lambert P.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society of Human Genetics 2008
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2427319/
https://ncbi.nlm.nih.gov/pubmed/18513682
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.05.007
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