Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

We investigated the genetic basis for a global and uniform decrease in mitochondrial translation in fibroblasts from patients in two unrelated pedigrees who developed Leigh syndrome, optic atrophy, and ophthalmoplegia. Analysis of the assembly of the oxidative phosphorylation complexes showed severe...

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Hauptverfasser: Antonicka, Hana, Østergaard, Elsebet, Sasarman, Florin, Weraarpachai, Woranontee, Wibrand, Flemming, Pedersen, Anne Marie B., Rodenburg, Richard J., van der Knaap, Marjo S., Smeitink, Jan A.M., Chrzanowska-Lightowlers, Zofia M., Shoubridge, Eric A.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2010
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Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2896764/
https://ncbi.nlm.nih.gov/pubmed/20598281
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.06.004
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