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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2017-06-01
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| Series: | Brain Sciences |
| Subjects: | |
| Online Access: | http://www.mdpi.com/2076-3425/7/7/71 |