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Identification of an in-frame homozygous KIF1A variant causing a mild SPG30 phenotype in a Korean family.

Gene - 20 Jun 2023

Lee Byeonghyeon, Song Ha Hyun, Kim Ye-Ri, Kim Jong-Heun, Cho Seong Tae, Lee Jeong Ho, Kim Un-Kyung, Park Jin-Sung

Abstract excerpt

SPG30 is a newly categorized type of HSP caused by variants in the kinesin family member 1A gene (KIF1A). Advances in next-generation sequencing have resulted in a limited number of studies describing the clinical, electrophysiological, and radiological features of HSP, with variable manifestations. Most known pathogenic KIF1A variants affect the motor domain, although some rare pathogenic variants have been...

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PMID: 37001573
DOI: 10.1016/j.gene.2023.147403

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