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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Bibliografske podrobnosti
Main Authors: 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
Jezik:Inglês
Izdano: Elsevier 2010
Teme:
Report
Online dostop: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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