The Natural History of Pelizaeus-Merzbacher Disease
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Abstract
Abstract Objective: The objective of this study was to characterize the clinical features, developmental milestones, and the natural history of Pelizaeus Merzbacher disease (PMD) associated with PLP1 gene duplications. Methods: The study examined 16 PMD Patients ranging in age from 7 to 48, who had a documented PLP1 gene duplication. The
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- europepmc
- last seen: 2026-05-19T01:45:01.086888+00:00