Article

A Novel de Novo Missense Mutation in KIF1A Associated with Young-Onset Upper-Limb Amyotrophic Lateral Sclerosis

2024-07-03

Abstract excerpt

<h4>Objectives: </h4> To investigate the etiology of amyotrophic lateral sclerosis (ALS) in an adult female patient. <h4>Methods:</h4> We conducted trio genome sequencing on a 35-year-old woman with progressive weakness in her left upper limb, as well as on her parents. Prior to sequencing, we performed a comprehensive neurological work-up on the patient, including neurological exam, electrophysiology, biomarker a...

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Literature Corpus work: 41ddf7c4-7605-51c8-9844-963b96dc419e
DOI: 10.20944/preprints202407.0355.v1

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