Article
Parkin-proven disease: common founders but divergent phenotypes.
Neurology - 27 May 2003
Lincoln S, Wiley J, Lynch T, Langston J W, Chen R, Lang A, Rogaeva E, Sa D S, Munhoz R P, Harris J, Marder K, Klein C, Bisceglio G, Hussey J, West A, Hulihan M, Hardy J, Farrer M
Abstract excerpt
OBJECTIVE: To compare and contrast clinical and genetic findings in six probands with parkinsonism with a parkin exon 3 438- to 477-bp deletion (Ex3Delta40) to search for evidence of a common founder. METHOD: Clinical review, parkin gene sequencing, dosage studies, and high-resolution genotype/haplotype analysis were performed. RESULTS: All subjects had two or more signs consistent with a diagnosis of possible or...
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