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Article

Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation.

Muscle & nerve - 1 May 2017

Doppler Kathrin, Kunstmann Erdmute, Krüger Stefan, Sommer Claudia

Abstract excerpt

INTRODUCTION: Charcot-Marie-Tooth neuropathy (CMT) 2E/1F is caused by mutations in the neurofilament light-chain polypeptide (NEFL) gene. Giant axons are a histological hallmark frequently seen in nerves of patients with CMT2E. METHODS: We describe the case of a 43-year-old patient with a painful, predominantly sensory neuropathy. RESULTS: The patient's sural nerve biopsy showed multiple giant axons. Genetic...

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Source

Identifiers

PMID: 27649278
DOI: 10.1002/mus.25410

Genes

NEFL

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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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