A novel α-synuclein missense mutation in Parkinson disease.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 23427326.
- Also identified by DOI 10.1212/WNL.0b013e31828727ba and PMC identifier 3653201.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
Alpha-synuclein (SNCA) is central to the pathogenesis of Parkinson disease (PD), with 3 missense mutations reported to date. We report a novel mutation (p.H50Q) in a pathologically proven case.
Medical subject headings
- Mutation, Missense
- Parkinson Disease
- alpha-Synuclein