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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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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

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