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Article

Phenotypic variability of parkin mutations in single kindred.

Movement disorders : official journal of the Movement Disorder Society - 1 Sept 2012

Koentjoro Brianada, Park Jin-Sung, Ha Ainhi Duy, Sue Carolyn M

Abstract excerpt

BACKGROUND: Mutations in parkin have been associated with autosomal recessive early-onset Parkinson's disease (PD). Here, we report on unusual phenotypic variability within a family with mutations in parkin. METHODS: The proband and her parents were clinically assessed. Mutation analysis was performed using genomic DNA and complementary DNA. The protein expression of Parkin and Mitofusin 2 was examined by western...

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PMID: 22807239
DOI: 10.1002/mds.25041

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