Novel mitochondrial tRNAIlem.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype-Reference-Cited by-同舟云学术

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Novel mitochondrial tRNAIlem.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype

Published:2014-07-17 Issue:10 Volume:98 Page:1453-1459
ISSN:0007-1161
Container-title:British Journal of Ophthalmology
language:en
Short-container-title:Br J Ophthalmol

Author:

Jackson Christopher B,Neuwirth Christoph,Hahn Dagmar,Nuoffer J-M,Frank Stephan,Gallati Sabina,Schaller André

Publisher

BMJ

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Reference25 articles.

1. Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia;Schaller;Mitochondrion,2011

2. A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO);Berardo;Neuromuscul Disord,2010

3. Handling mammalian mitochondrial tRNAs and aminoacyl-tRNA synthetases for functional and structural characterization;Sissler;Methods,2008

4. Neuromuscular disease presentation with three genetic defects involving two genomes;Al-Dosary;Neuromuscul Disord,2009

5. Mamit-tRNA, a database of mammalian mitochondrial tRNA primary and secondary structures;Putz;RNA,2007

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