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April 24, 2026Human Molecular Genetics0 citations

The p.(Leu97Ile) variant expands the genetic landscape of NEFL -associated Charcot–Marie-tooth neuropathies

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MOMenekse OeztuerkSWSara WalliDMD. Muhmann

Key Points

  • To investigate the pathogenicity of the p.(Leu97Ile) variant and its interaction with p.(Arg206Ser) in NEFL-associated Charcot-Marie-Tooth neuropathies.
  • Combined clinical evaluation with biochemical and structural analysis
  • Assessment of genetic variants and their impacts
  • Confirmed the pathogenic nature of p.(Leu97Ile)
  • Suggested that p.(Arg206Ser) enhances the biological effect of p.(Leu97Ile)
  • Expanded understanding of the genetic and phenotypic variability in NEFL-related neuropathies

Abstract

Integrated clinical, biochemical, and structural evidence support pathogenicity of p.(Leu97Ile) and suggest that p.(Arg206Ser) in cis augments its biological impact. These findings expand the genetic and phenotypic spectrum of NEFL-associated CMT1F.

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Cite This Study

Oeztuerk et al. (2026) studied this question.

synapsesocial.com/papers/69eb08ef553a5433e34b39f5https://doi.org/10.1093/hmg/ddag028
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