Article
Mutation of the Parkin gene in a Persian family: clinical progression over a 40-year period.
Movement disorders : official journal of the Movement Disorder Society - 1 Jul 2005
Clarimon Jordi, Johnson Janel, Djaldetti Ruth, Hernandez Dena, Hattori Nobutaka, Sroka Hava, Barhom Yael, Singleton Andrew
Abstract excerpt
We report on an Israeli family originating from Iran in which 4 of 7 brothers born from a consanguineous marriage had juvenile Parkinsonism. Linkage analysis of markers covering the autosomal recessive juvenile Parkinsonism (AR-JP, PARK2, Parkin gene, OMIM #602544) gene resulted in a maximal logarithm of odds score of 2.18. A homozygous deletion that expanded from exon 4 to exon 6 was identified in all the...
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