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Article

Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes.

Journal of neuromuscular diseases - 1 Jan 2024

Della Marina Adela, Hentschel Andreas, Czech Artur, Schara-Schmidt Ulrike, Preusse Corinna, Laner Andreas, Abicht Angela, Ruck Tobias, Weis Joachim, Choueiri Catherine, Lochmüller Hanns, Kölbel Heike, Roos Andreas

Abstract excerpt

Background: NEFL encodes for the neurofilament light chain protein. Pathogenic variants in NEFL cause demyelinating, axonal and intermediate forms of Charcot-Marie-Tooth disease (CMT) which present with a varying degree of severity and somatic mutations have not been described yet. Currently, 34 different CMT-causing pathogenic variants in NEFL in 174 patients have been reported. Muscular involvement was also...

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Identifiers

PMID: 38578900
DOI: 10.3233/JND-230230
PMCID: PMC11091643

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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