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

Yueqian Sun, Ziqi Zhou,Qun Wang, Jing Yan,Zaiqiang Zhang,Tao Cui

Molecular genetics & genomic medicine（2023）

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摘要

We identified a new heterozygous mutation (c.71+1G>A) in a Chinese LD pedigree, which broadens the mutation spectrum of LD genes. We found that the patient exhibited brain volumetric atrophy along with rapidly worsening symptoms. These results contribute to our understanding of LD.

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关键词

brain atrophy, Lafora disease, MRI, mutation, pedigree

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