2023
DOI: 10.22541/au.168069104.41222428/v1
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The Natural History of Pelizaeus-Merzbacher Disease

Angela Trepanier
1
,
Sienna Aguilar
2
,
John Kamholz
3
et al.

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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