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A novel TFG variant of uncertain significance in amyotrophic lateral sclerosis: A case report and review of literature. | LitMetric

AI Article Synopsis

Article Abstract

Introduction: Amyotrophic lateral sclerosis is a neurodegenerative disease with wide variation of genetics associated with it. Among the different genes described, mutation in TFG is a rare finding in amyotrophic lateral sclerosis.

Case Presentation: A 35 years old right-handed male presenting with ipsilateral weakness was diagnosed with amyotrophic lateral sclerosis. He was found to have missense variant of TFG with uncertain significance on exome sequencing.

Clinical Discussion: The genetics involved in amyotrophic lateral sclerosis is ever-evolving. The identification of new TFG variant in this disease adds another evidence to the role of TFG in neurodegenerative disease.

Conclusions: The finding of TFG variant of uncertain significance is a rare finding in amyotrophic lateral sclerosis. And with the identification of new TFG variant, it leads to further understanding of spectrum of TFG and its pathophysiology in amyotrophic lateral sclerosis.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9793128PMC
http://dx.doi.org/10.1016/j.amsu.2022.104840DOI Listing

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