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LRRK2 and Parkin mutations in a family with parkinsonism-Lack of genotype-phenotype correlation
Authors:Marras Connie  Klein Christine  Lang Anthony E  Wakutani Yosuke  Moreno Danielle  Sato Christine  Yip Edwin  Munhoz Renato P  Lohmann Katja  Djarmati Ana  Bi Andrew  Rogaeva Ekaterina
Affiliation:Movement Disorders Centre, Toronto Western Hospital, Toronto, Canada. Connie.marras@utoronto.ca
Abstract:
Here we report the relationship between age at onset, clinical course and genotype in a family with combined LRRK2 G2019S and Parkin exon 2 deletions. In the combined mutation carriers the age at onset and clinical course was highly variable and not always younger than in the carriers of LRRK2 G2019S mutations alone.
Keywords:
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