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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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Ravn, Kirstine, Schönewolf-Greulich, Bitten, Hansen, Rikke M., Bohr, Anna-Helene, Duno, Morten, Wibrand, Flemming, Ostergaard, Elsebet
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
Assuntos:
Research Paper
Acesso em linha: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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