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A case of juvenile-onset amyotrophic lateral sclerosis with a de novo frameshift FUS gene mutation presenting with bilateral abducens palsy.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 May 2022

Wu Ying, Li Chunyu, Yang Tianmi, Lin Junyu, Shang Huifang

Abstract excerpt

Fused in sarcoma (FUS) is the most common causative gene in juvenile-onset amyotrophic lateral sclerosis (jALS). We presented a case of a 15-year-old Chinese girl with atypical and extremely rare bilateral abducens palsy was caused by a heterozygous c.1520del (p.Gly507Alafs*22) pathogenic frameshift mutation in the FUS gene revealed by whole-exome sequencing. This is the first jALS case presenting with bilateral...

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PMID: 34074186
DOI: 10.1080/21678421.2021.1927100

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