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

2025-02-06

Abstract excerpt

Charcot-Marie-Tooth (CMT) is the most common hereditary peripheral neuropathy with an incidence of 1:2,500. 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 protei...

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Literature Corpus work
94ca7942-b741-5101-b1be-d3716ef3c587
DOI
10.1101/2025.02.02.636117
Open publication

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Novel neurofilament light ( <i>Nefl</i> ) E397K mouse models of Charcot-Marie-Tooth type 2E (CMT2E) present early and chronic axonal neuropathyDOI 10.1101/2025.02.02.636117
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