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

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Adult polyglucosan body disease: a postmortem correlation study.

Autopsy of a 50-year-old woman with adult polyglucosan body disease and missense mutations (Arg515His, Arg524Gln) in the glycogen branching enzyme gene ( GBE) revealed accumulation of polyglucosan bodies in the heart, brain, and nerve. GBE activity was decreased in the morphologically affected tissues but was normal in unaffected tissues. GBE mRNA transcripts were similar in all tissues and in controls, which confirms the lack of tissue-specific GBE isoforms.[1]

References

  1. Adult polyglucosan body disease: a postmortem correlation study. Sindern, E., Ziemssen, F., Ziemssen, T., Podskarbi, T., Shin, Y., Brasch, F., Müller, K.M., Schröder, J.M., Malin, J.P., Vorgerd, M. Neurology (2003) [Pubmed]
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