Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations

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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Bibliographic Details
Main Authors: Kirstine Ravn, Bitten Schönewolf-Greulich, Rikke M. Hansen, Anna-Helene Bohr, Morten Duno, Flemming Wibrand, Elsebet Ostergaard
Format: Article
Language:English
Published: Elsevier 2015-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
EFG1 (GFM1, 606639)
Neonatal mitochondrial hepatoencephalopathy
Mitochondrial disorder
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426915000063

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http://www.sciencedirect.com/science/article/pii/S2214426915000063

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