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Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?
Journal article   Peer reviewed

Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?

K Hedrich, Peter P. Pramstaller, K Stübke, A Hiller, K Kabakci, S Purmann, M Kasten, C Scaglione, E Schwinger, J Volkmann, …
Movement Disorders, Vol.20(8), pp.1060-1062
20
2005
Handle:
https://hdl.handle.net/10863/6033
PMID: 15929093

Abstract

Premutations in the FMR1 gene may be associated with some cases of parkinsonism. To test this hypothesis, we determined the CGG repeat number in FMR1 in 673 individuals with and without parkinsonism and detected 3 premutation carriers (2 patients, 1 control). Of note, 1 of the affected premutation carriers had a heterozygous Parkin mutation.

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