Yonsei Med J.
2003 Apr;44(2):336-339. 10.3349/ymj.2003.44.2.336.
Homozygous Exon 4 Deletion in Parkin Gene in a Korean Family with Autosomal Recessive Early Onset Parkinsonism
- Affiliations
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- 1Department of Neurology, Kangnam St. Mary Hospital, #505, Banpo-dong, Seocho-gu, Seoul 137-701, Korea. ks1007@cmc.cuk.ac.kr
- 2Department of Pharmacology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
- 3Neuroscience Genome Research Center, College of Medicine, The Catholic University of Korea, Seoul, Korea.
- KMID: 1779486
- DOI: http://doi.org/10.3349/ymj.2003.44.2.336
Abstract
- The gene responsible for autosomal recessive parkinsonism, parkin, has recently been identified on chromosome 6q. It has been shown to be mutated in Japanese and European families, most of whom had early-onset parkinsonism. Here, we present a family with young-onset parkinsonism of an autosomal recessive inheritance. A homozygous exon 4 deletion in the parkin gene was found in 3 family members. To the best of the authors' knowledge, this is the first report in Korea of familial parkinsonism with the parkin gene mutation.
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