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Neurology. 2003 Jul 22;61(2):263-5.

Adult polyglucosan body disease: a postmortem correlation study.

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Department of Neurology, BG-Kliniken Bergmannsheil, Ruhr University, Bochum, Germany.


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.

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