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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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| Publicado no: | Brain Sci |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5532584/ https://ncbi.nlm.nih.gov/pubmed/28672806 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/brainsci7070071 |
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