Marked variation in clinical presentation and age of onset in a family with a heterozygous parkin mutation.

Abstract excerpt

Parkin gene mutations have been detected in families with early-onset autosomal recessive parkinsonism. We report a novel heterozygous 40 base pair deletion in exon 3 of the parkin gene that increases the susceptibility of carriers to develop parkinsonism/dystonia and manifests remarkable variability in regard to age of onset and phenotype in a single family. After identifying the new mutation in the proband of...

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