期刊
FRONTIERS IN NEUROLOGY
卷 13, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fneur.2022.984866
关键词
amyotrophic lateral sclerosis; FIG4; mutation; genetics; case report
This study reports a variant of the FIG4 gene associated with amyotrophic lateral sclerosis (ALS), which has not been previously reported in ALS or primary lateral sclerosis (PLS) patients. It provides further information on the genotypes and phenotypes of patients with FIG4 mutations.
Heterozygous autosomal-dominant FIG4 mutations are associated with amyotrophic lateral sclerosis (ALS). Here, we describe a variant of the FIG4 gene (c.350dupC, p.Asp118GlyfsTer9) in a patient with rapidly progressive ALS that has not previously been reported in ALS or primary lateral sclerosis (PLS) patients before. Our study provides further information on the genotypes and phenotypes of patients with FIG4 mutations.
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