Phenotypic Discordance in Siblings with Identical Compound Heterozygous PARK2 Mutations

Phenotypic Discordance in Siblings with Identical Compound Heterozygous PARK2 Mutations

PARK2 mutations are the most common cause of early-onset Parkinson’s disease. No genotype-phenotype correlation exists, and phenotypic variability is quite common. We report two siblings with confirmed identical compound heterozygous mutations in the PARK2 gene manifesting strikingly different pheno...

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Bibliographic Details
Main Authors: David Isaacs, Daniel Claassen, Aaron B. Bowman, Peter Hedera
Format: Article
Language:English
Published: MDPI AG 2017-06-01
Series:Brain Sciences
Subjects:
PARK2
parkin
Parkinson’s disease
DAT-SPECT
Online Access:http://www.mdpi.com/2076-3425/7/7/71

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