Adult polyglucosan body disease: a postmortem correlation study
Publikation: Beitrag in Fachzeitschrift › Forschungsartikel › Beigetragen › Begutachtung
Beitragende
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
| Originalsprache | Englisch |
|---|---|
| Seiten (von - bis) | 263-5 |
| Seitenumfang | 3 |
| Fachzeitschrift | Neurology |
| Jahrgang | 61 |
| Ausgabenummer | 2 |
| Publikationsstatus | Veröffentlicht - 22 Juli 2003 |
| Peer-Review-Status | Ja |
Externe IDs
| Scopus | 12444274294 |
|---|---|
| ORCID | /0000-0001-8799-8202/work/171553441 |
Schlagworte
Schlagwörter
- 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