- Case Report
Phenotypic Discordance in Siblings with Identical Compound Heterozygous PARK2 Mutations
- David Isaacs,
- Daniel Claassen,
- Aaron B. Bowman and
- Peter Hedera
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...