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Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients

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Abstract

The first mutations described in PINK1 were homozygous. More recently, heterozygous mutations have been reported but the role of heterozygosity in disease pathogenesis is still debated. We describe two unrelated cases with PINK1 mutations (homozygous nonsense and heterozygous missense) that highlight issues regarding the role of heterozygous mutations and the utility of genetic screening in patient care. © 2006 Movement Disorder Society

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