Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene

We report a novel pathogenic mutation of the mitochondrial transfer RNA (tRNA) gene for tryptophan in a patient with isolated myopathy and persistently elevated creatine kinase. Muscle studies revealed ragged red fibres and decreased activity of respiratory chain complex I and cytochrome c oxidase (...

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Hauptverfasser: Barić, Ivo, Fumić, Ksenija, Petković Ramadža, Danijela, Sperl, Wolfgang, Zimmermann, Franz A, Muačević-Katanec, Diana, Mitrović, Zoran, Pažanin, Leo, Cvitanović Šojat, Ljerka, Kekez, Tihomir, Reiner, Željko, Mayr, Johannes A
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2013
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3722682/
https://ncbi.nlm.nih.gov/pubmed/23232693
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.272
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