Case report: LMNB1 duplication-mediated autosomal dominant adult leukodystrophy in a Chinese family and literature review of Chinese patients

Case report: LMNB1 duplication-mediated autosomal dominant adult leukodystrophy in a Chinese family and literature review of Chinese patients

Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare, slowly progressive, and fatal neurodegenerative disorder characterized by central nervous system white matter loss due to LMNB1 gene abnormalities encoding laminB1. However, not all LMNB1 mutations lead to ADLD. Currently, two genetic a...

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Bibliographic Details
Main Authors: Yumeng Jiang, Lu Han, Yaqi Li, Zhihong Zhao, Zikai Xin, Zilong Zhu
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-02-01
Series:Frontiers in Neuroscience
Subjects:
autosomal dominant adult leukodystrophy
LMNB1 gene
Chinese family
whole exome sequencing
the multiplex ligation-dependent probe amplification
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fnins.2025.1531593/full
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https://www.frontiersin.org/articles/10.3389/fnins.2025.1531593/full

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