Article
MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease.
Molecular genetics & genomic medicine - 1 Oct 2023
Sun Yueqian, Zhou Ziqi, Wang Qun, Yan Jing, Zhang Zaiqiang, Cui Tao
Abstract excerpt
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, muscle biopsy, pedigree analysis, and MRI analysis were conducted. Five family members (two of whom were affected by...
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