期刊
NEUROLOGY
卷 56, 期 11, 页码 1573-1575出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.56.11.1573
关键词
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Autosomal recessive juvenile parkinsonism (AR-JP) is an early-onset parkinsonism caused by exonic deletions or point mutations in the parkin gene. 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.
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