Genetic and clinical analysis of OPTN in amyotrophic lateral sclerosis.

doi:10.1136/jmg-2024-109978

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Article

Genetic and clinical analysis of OPTN in amyotrophic lateral sclerosis.

Journal of medical genetics - 20 Mar 2025

Xiao Yi, Tan Yushan, Li Chunyu, Wei Qianqian, Jiang Qirui, Wang Shichan, Yang Tianmi, Lin Junyu, Zhang Lingyu, Shang Huifang

Abstract excerpt

BACKGROUND: Considerable heterogeneity in genotypes and phenotypes has been observed among patients with amyotrophic lateral sclerosis (ALS) harbouring optineurin gene (OPTN) mutations, as reported in prior studies. The study aimed to elucidate the correlation between OPTN genotypes and phenotypes. METHODS: OPTN gene variants were screened within a substantial Chinese cohort of patients with ALS, encompassing LoF...

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PMID: 39779313
DOI: 10.1136/jmg-2024-109978

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OPTN

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