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Article

A novel RAB39B gene mutation in X‐linked juvenile parkinsonism with basal ganglia calcification

1 Dec 2016

Abstract excerpt

OBJECTIVES: Mutations in RAB39B have been reported as a potential cause of X-linked Parkinson's disease (PD), a rare form of familial PD. We conducted a genetic analysis on RAB39B to evaluate whether RAB39B mutations are related to PD in the Chinese population. METHODS: In this study, 2 patients from an X-linked juvenile parkinsonism pedigree were clinically characterized and underwent whole-exome sequencing. A...

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PMID: 27943471
DOI: 10.1002/mds.26828

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