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Article

Novel neurofilament light (Nefl) E397K mouse models of Charcot-Marie-tooth type 2E (CMT2E) present early and chronic axonal neuropathy.

Human molecular genetics - 3 Sept 2025

Pérez-López Dennis O, Shively Audrey A, Llorente Torres F Javier, Abu-Salah Mohammed T, Garcia Michael L, Arnold W David, Lorson Monique A, Lorson Christian

Abstract excerpt

Charcot-Marie-Tooth (CMT) is the most common hereditary peripheral neuropathy with an incidence of 1:2500. CMT2 clinical symptoms include distal muscle weakness and atrophy, sensory loss, toe and foot deformities, with some patients presenting with reduced nerve conduction velocity. Mutations in the neurofilament light chain (NEFL) gene result in a specific form of CMT2 disease, CMT2E. NEFL encodes the protein,...

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Identifiers

PMID: 40635134
DOI: 10.1093/hmg/ddaf116
PMCID: PMC13169171

Genes

NEFL

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Novel neurofilament light (Nefl) E397K mouse models of Charcot-Marie-tooth type 2E (CMT2E) present early and chronic axonal neuropathy.PMID 40635134Read ↗

Novel neurofilament light ( <i>Nefl</i> ) E397K mouse models of Charcot-Marie-Tooth type 2E (CMT2E) present early and chronic axonal neuropathySemantic proximity Read ↗

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