Genotype-phenotype correlations of KIF5A stalk domain variants

Volume: 22, Issue: 7-8, Pages: 561 - 570
Published: Apr 8, 2021
Abstract
The kinesin family member 5A (KIF5A) motor domain variants are typically associated with hereditary spastic paraplegia (HSP) or Charcot-Marie-Tooth 2 (CMT2), while KIF5A tail variants predispose to amyotrophic lateral sclerosis (ALS) and neonatal intractable myoclonus. Variants within the stalk domain of KIF5A are relatively rare. We describe a family of three patients with a complex HSP phenotype and a likely pathogenic KIF5A stalk variant....
Paper Details
Title
Genotype-phenotype correlations of KIF5A stalk domain variants
Published Date
Apr 8, 2021
Volume
22
Issue
7-8
Pages
561 - 570
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