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Article

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

Human molecular genetics - 15 Apr 2026

Oeztuerk Menekse, Walli Sara, Muhmann David, Choueiri Catherine, Dobelmann Vera, Abicht Angela, Leube Barbara, Schara-Schmidt Ulrike, Meuth Sven G, Horvath Rita, Lochmueller Hanns, Roos Andreas, Ruck Tobias

Abstract excerpt

INTRODUCTION: Charcot Marie Tooth neuropathies arise from diverse genetic disturbances that impair axonal structure or myelin integrity. Variants in NEFL, encoding the light chain of neurofilaments, represent a rare cause of CMT and may disrupt filament assembly, axonal transport, and cytoskeletal stability. Because NEFL variants are uncommon and phenotypes variable, the pathogenic relevance of individual...

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Source

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Identifiers

PMID: 42017539
DOI: 10.1093/hmg/ddag028
PMCID: PMC13100818

Genes

NEFL
FGF21
GDF15
NCAM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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The p.(Leu97Ile) variant expands the genetic landscape of NEFL-associated Charcot-Marie-tooth neuropathies.PMID 42017539Read ↗

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A novel homozygous nonsense mutation in NEFL causes autosomal recessive Charcot-Marie-Tooth disease.Semantic proximity Read ↗

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