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Adult polyglucosan body disease

22 Jul 2003

Abstract excerpt

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...

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PMID: 12874416
DOI: 10.1212/01.wnl.0000073144.96680.cb

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