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

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Multiple mtDNA deletions with features of MNGIE.

Two sisters developed gastrointestinal malabsorption with pain and unsteady gait due to polyneuropathy at age 15. Both had ophthalmoplegia, neurogenic EMG, and COX-negative muscle fibers. One patient had low muscle complex I-IV activity, multiple mtDNA deletions, and depletion, but no thymidine phosphorylase ( TP) or dNT-2 gene mutations. TP activity and brain MRI were normal. The condition resembles mitochondrial neurogastrointestinal encephalomyopathy, except for the absence of leukoencephalopathy, and is likely caused by a nuclear DNA mutation that disrupts intergenomic signaling.[1]

References

  1. Multiple mtDNA deletions with features of MNGIE. Vissing, J., Ravn, K., Danielsen, E.R., Dunø, M., Wibrand, F., Wevers, R.A., Schwartz, M. Neurology (2002) [Pubmed]
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