| Literature DB >> 11402119 |
P Nisipeanu1, R Inzelberg, S Abo Mouch, R L Carasso, S C Blumen, J Zhang, H Matsumine, N Hattori, Y Mizuno.
Abstract
Autosomal recessive juvenile parkinsonism (AR-JP) is an early-onset parkinsonism caused by exonic deletions or point mutations in the parkingene. The relationship between the type of the genetic defect and the clinical presentation, the response to therapy, and the evolution have not been yet determined. The authors describe a single-basepair deletion at nucleotide 202 in exon 2 of the parkin gene in a kindred with a benign clinical course.Entities:
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Year: 2001 PMID: 11402119 DOI: 10.1212/wnl.56.11.1573
Source DB: PubMed Journal: Neurology ISSN: 0028-3878 Impact factor: 9.910