Title : Adult polyglucosan body disease: a postmortem correlation study.

Pub. Date : 2003 Jul 22

PMID : 12874416






1 Functional Relationships(s)
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1 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. Glycogen 1,4-alpha-glucan branching enzyme 1 Homo sapiens