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

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 sequencing, mus...

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Detalles Bibliográficos
Autores principales: Sun, Yueqian, Zhou, Ziqi, Wang, Qun, Yan, Jing, Zhang, Zaiqiang, Cui, Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10568394/
https://www.ncbi.nlm.nih.gov/pubmed/37455597
http://dx.doi.org/10.1002/mgg3.2228

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