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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Detalles Bibliográficos
Autores principales: Isaacs, David, Claassen, Daniel, Bowman, Aaron B., Hedera, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5532584/
https://www.ncbi.nlm.nih.gov/pubmed/28672806
http://dx.doi.org/10.3390/brainsci7070071

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5532584/
https://www.ncbi.nlm.nih.gov/pubmed/28672806
http://dx.doi.org/10.3390/brainsci7070071

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