Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Editor

Personal info

View

About

Terms

Javascript disabled

Please enable Javascript support in your browser to use this application.

Instructions on how to enable JavaScript on different browsers can be found here: http://www.google.com/support/bin/answer.py?answer=23852.

[edit this page]

Leshinsky-Silver, E. et al.

Esther Leshinsky-Silver, Ruslan Shuvalov, Shani Inbar, Sarit Cohen, Dorit Lev, Tally Lerman-Sagie,

Juvenile Leigh Syndrome, Optic Atrophy, Ataxia, Dystonia, and Epilepsy due to T14487C Mutation in the mtDNA-ND6 Gene: A Mitochondrial Syndrome Presenting From Birth to Adolescence.

An increasing number of reports describe mutations in mitochondrial DNA coding regions, especially in mitochondrial DNA- encoded nicotinamide adenine dinucleotide dehydrogenase subunit genes of the respiratory chain complex I, as causing early-onset Leigh syndrome. The authors report the molecular findings in a 24-year-old patient with juvenile-onset Leigh syndrome presenting with optic atrophy, ataxia dystonia, and epilepsy. A brain magnetic resonance imaging revealed bilateral basal ganglia and thalamic hypointensities, and a magnetic resonance spectroscopy revealed an increased lactate peak. The authors identified a T14487C change causing M63V substitution in the mitochondrial ND6 gene. The mutation was heteroplasmic in muscle and blood samples, with different mutation loads, and was absent in the patient's mother's urine and blood samples. They suggest that the T14487C mtDNA mutation should be analyzed in Leigh syndrome, presenting with optic atrophy, ataxia, dystonia, and epilepsy, regardless of age.[1]

References

Juvenile Leigh Syndrome, Optic Atrophy, Ataxia, Dystonia, and Epilepsy due to T14487C Mutation in the mtDNA-ND6 Gene: A Mitochondrial Syndrome Presenting From Birth to Adolescence. Leshinsky-Silver, E., Shuvalov, R., Inbar, S., Cohen, S., Lev, D., Lerman-Sagie, T. J. Child Neurol. (2011) [Pubmed]

Annotations and hyperlinks in this abstract are from individual authors of WikiGenes or automatically generated by the WikiGenes Data Mining Engine. The abstract is from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenes Open Access Licence Privacy Policy Terms of Use apsburg

The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.