Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations

Disorders caused by defects in the mitochondrial translation system are clinically and genetically heterogeneous. The elongation phase of mitochondrial protein synthesis requires, among many other components, three nuclear-encoded elongation factors: EFTu (TUFM; 602389), EFTs (TSFM; 604723), and EFG...

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Dettagli Bibliografici
Pubblicato in:Mol Genet Metab Rep
Autori principali: Ravn, Kirstine, Schönewolf-Greulich, Bitten, Hansen, Rikke M., Bohr, Anna-Helene, Duno, Morten, Wibrand, Flemming, Ostergaard, Elsebet
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2015
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Research Paper
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4750589/
https://ncbi.nlm.nih.gov/pubmed/26937387
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2015.01.004
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