MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease

MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease

Abstract Background and Purpose Lafora disease (LD) is a very rare autosomal recessive disorder manifesting primarily as fatal, congenital, and neurodegenerative epilepsies. We aimed to describe the MRI characteristics due to gene mutations in a Chinese pedigree with LD. Methods Whole‐exome sequenci...

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Bibliographic Details
Main Authors: Yueqian Sun, Ziqi Zhou, Qun Wang, Jing Yan, Zaiqiang Zhang, Tao Cui
Format: Article
Language:English
Published: Wiley 2023-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
brain atrophy
Lafora disease
MRI
mutation
pedigree
Online Access:https://doi.org/10.1002/mgg3.2228

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