The natural history of Pelizaeus–Merzbacher disease caused by PLP1 duplication: A multiyear case series

The natural history of Pelizaeus–Merzbacher disease caused by PLP1 duplication: A multiyear case series

Key Clinical Message This study aimed to characterize the clinical features, developmental milestones, and the natural history of Pelizaeus–Merzbacher disease (PMD) associated with PLP1 gene duplications. The study examined 16 PMD Patients ranging in age from 7 to 48 years, who had a documented PLP1...

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Bibliographic Details
Main Authors: Angela M. Trepanier, Sienna Aguilar, John Kamholz, Jeremy J. Laukka
Format: Article
Language:English
Published: Wiley 2023-09-01
Series:Clinical Case Reports
Subjects:
gene duplication
humans
mutation
myelin proteolipid protein
Pelizaeus–Merzbacher disease/genetics
Pelizaeus–Merzbacher disease/pathophysiology
Online Access:https://doi.org/10.1002/ccr3.7814

Internet

https://doi.org/10.1002/ccr3.7814

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