Article
Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.
Annals of neurology - 1 Dec 1998
Lossos A, Meiner Z, Barash V, Soffer D, Schlesinger I, Abramsky O, Argov Z, Shpitzen S, Meiner V
Abstract excerpt
Adult polyglucosan body disease (APBD) is a late-onset, slowly progressive disorder of the nervous system caused by glycogen branching enzyme (GBE) deficiency in a subgroup of patients of Ashkenazi Jewish origin. Similar biochemical finding is shared by glycogen storage disease type IV (GSD IV) t...
Topics
- 1,4-alpha-Glucan Branching Enzyme
- Aged
- Amino Acid Sequence
- DNA Mutational Analysis
- Female
- Glucans
- Humans
- Jews
- Male
- Middle Aged
- Mutation
- Nervous System Diseases
- Pedigree