Adult polyglucosan body disease: a postmortem correlation study
Research output: Contribution to journal › Research article › Contributed › peer-review
Contributors
Abstract
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.
Details
| Original language | English |
|---|---|
| Pages (from-to) | 263-5 |
| Number of pages | 3 |
| Journal | Neurology |
| Volume | 61 |
| Issue number | 2 |
| Publication status | Published - 22 Jul 2003 |
| Peer-reviewed | Yes |
External IDs
| Scopus | 12444274294 |
|---|---|
| ORCID | /0000-0001-8799-8202/work/171553441 |
Keywords
Keywords
- 1,4-alpha-Glucan Branching Enzyme/analysis, Amino Acid Substitution, Atrophy, Brain/enzymology, Carbohydrate Metabolism, Inborn Errors/genetics, Cardiomegaly/etiology, Death, Sudden, Cardiac/etiology, Demyelinating Diseases/etiology, Ethnicity/genetics, Female, Gene Expression Regulation, Enzymologic, Genes, Recessive, Glucans/metabolism, Heart Failure/etiology, Humans, Middle Aged, Mutation, Missense, Myocardium/enzymology, Nerve Tissue Proteins/analysis, Organ Specificity, Peripheral Nerves/enzymology, RNA, Messenger/analysis