Article

The <i>Nefl</i> <sup>E397K</sup> mouse model demonstrates muscle pathology and motor function deficits consistent with CMT2E

2025-02-03

Abstract excerpt

Charcot-Marie-Tooth (CMT) disease affects approximately 1 in 2,500 people and represents a heterogeneous group of inherited peripheral neuropathies characterized by progressive motor and sensory dysfunction. CMT type 2E is a result of mutations in the neurofilament light ( NEFL ) gene with predominantly autosomal dominant inheritance, often presenting with a progressive neuropathy with distal muscle weakness, sen...

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Literature Corpus work: 3ebd19bd-da9e-56b2-8e9d-0afe569e0d47
DOI: 10.1101/2025.02.02.636119

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